Nuclear and Cytoplasmatic Players in Mitochondria-Related CNS Disorders: Chromatin Modifications and Subcellular Trafficking

Review Biochemistry & Molecular Biology

Vitamin D in autophagy signaling for health and diseases: Insights on potential mechanisms and future perspectives

Sujit Kumar Bhutia

Summary: Vitamin D regulates cellular homeostasis through activating autophagy, protecting against oxidative stress and apoptosis, and inducing anticancer mechanisms. It also modulates inflammation and host immunity through autophagy signaling.

JOURNAL OF NUTRITIONAL BIOCHEMISTRY (2022)

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Article Cell Biology

A fragment of cell adhesion molecule L1 reduces amyloid-β plaques in a mouse model of Alzheimer's disease

Junkai Hu et al.

Summary: The expression of L1 and L1-70 is reduced in the hippocampus of AD mice. Upregulation of L1-70 can reduce amyloid plaque deposition and activate microglia. L1-70 forms a complex with Top1, regulating MIF expression, thus contributing to the clearance of A beta in AD.

CELL DEATH & DISEASE (2022)

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Article Multidisciplinary Sciences

Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice

Ting Li et al.

Summary: The research reveals the crucial role of KANSL1 gene in modulating autophagosome-lysosome fusion and identifies 13-cis retinoic acid as a potential treatment for mitophagic defects and neurobehavioral abnormalities in mice lacking Kansl1.

NATURE COMMUNICATIONS (2022)

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Article Biochemistry & Molecular Biology

Selective localization of Mfn2 near PINK1 enables its preferential ubiquitination by Parkin on mitochondria

Marta Vranas et al.

Summary: Mutations in Parkin and PINK1 cause early-onset familial Parkinson's disease. The study found that His433 contributes to the catalysis of Parkin and its mutation impairs mitophagy. Mfn2 is a kinetically preferred substrate for Parkin, co-localizing with PINK1 and phospho-ubiquitin upon mitochondrial depolarization.

OPEN BIOLOGY (2022)

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Article Cell Biology

Mitophagy: Molecular Mechanisms, New Concepts on Parkin Activation and the Emerging Role of AMPK/ULK1 Axis

Roberto Iorio et al.

Summary: Mitochondria are critical organelles for cellular energy balance and cell death. Mitophagy, the selective removal of dysfunctional mitochondria by autophagy, plays important roles in maintaining mitochondrial health. Both impaired and excessive mitophagy are involved in various ageing-associated diseases. Recent advances have explored the molecular mechanisms and signaling pathways that regulate mitophagy, including the early role and spatial specificity of the AMPK/ULK1 axis.

CELLS (2022)

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Article Biochemistry & Molecular Biology

NOG-Derived Peptides Can Restore Neuritogenesis on a CRASH Syndrome Cell Model

Matteo Gasparotto et al.

Summary: Homo- and heterophilic binding mediated by the immunoglobulin (Ig)-like repeats of cell adhesion molecules play a crucial role in cell-cell and cell-extracellular matrix interactions. L1CAM is vital for neuronal differentiation in both mature and developing nervous systems, and its functional interactions are mainly mediated by Ig2-Ig2 binding. X-linked mutations in the human L1CAM gene result in L1 diseases, including the commonly diagnosed CRASH neurodevelopmental syndrome. In silico simulations have provided a molecular rationale for CRASH phenotypes caused by specific mutations in the homophilic binding region of Ig2. Synthetic peptides reproducing this region can mimic the neuritogenic capacity of L1CAM and rescue neuritogenesis in a cellular model of the CRASH syndrome, where the full L1CAM ectodomain is ineffective.

BIOMEDICINES (2022)

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Article Biochemistry & Molecular Biology

MicroRNA-Enriched Exosomes from Different Sources of Mesenchymal Stem Cells Can Differentially Modulate Functions of Immune Cells and Neurogenesis

Naina Soni et al.

Summary: This study investigates the effects of exosomes derived from different sources on immune cells. The expression levels of miRNAs varied within different MSCs and exosomes, and most miRNAs had expression profiles different from their respective sources. Exosomes from different sources had different abilities to induce neurogenesis and angiogenesis, as well as varying effects on PBMC proliferation, neutrophil survival, and NET formation.

BIOMEDICINES (2022)

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Article Cell Biology

Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

Katrin Linda et al.

Summary: This study investigates the role of KANSL1 in autophagy in neurons, finding that its deficiency leads to decreased antioxidant enzyme SOD1, resulting in oxidative stress and autophagosome accumulation, ultimately causing reduced synaptic density and impaired neuronal network activity.

AUTOPHAGY (2022)

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Article Cell Biology

Acetylation of STX17 (syntaxin 17) controls autophagosome maturation

Qiuhong Shen et al.

Summary: In this study, it was found that the acetylation of STX17 regulates its SNARE activity and autophagic degradation, affecting the fusion of autophagosomes with lysosomes and promoting the degradation of autophagic cargoes. These findings suggest a mechanism by which acetylation regulates late-stage autophagy and other STX17-related intracellular membrane fusion events.

AUTOPHAGY (2021)

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Review Cell Biology

New insights regarding SNARE proteins in autophagosome-lysosome fusion

Xiaoyu Tian et al.

Summary: Macroautophagy/autophagy is a cellular mechanism for the degradation of cellular contents, with the final step being the fusion of autophagosome with the lysosome mediated by SNARE proteins. In addition to regulating autophagosome-lysosome fusion, some SNAREs are also involved in other autophagic processes, controlling fusion process spatially and temporally.

AUTOPHAGY (2021)

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Article Neurosciences

Identification of Full-Length Wild-Type and Mutant Huntingtin Interacting Proteins by Cros slinking Immunoprecipitation in Mice Brain Cortex

Karen A. Sap et al.

Summary: The study aimed to identify proteins interacting with wild-type and mutant huntingtin to understand their roles in different biological processes. Results showed that both types of huntingtin interacted with various proteins involved in different cellular functions such as exocytosis, vesicle transport, translation, and metabolism.

JOURNAL OF HUNTINGTONS DISEASE (2021)

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Article Clinical Neurology

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia

Edoardo Monfrini et al.

Summary: In this study, a novel homozygous VPS11 variant was found to be associated with adult-onset generalized dystonia. The variant affects lysosomal and autophagic pathways, potentially serving as the genetic cause of the disease.

ANNALS OF NEUROLOGY (2021)

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Article Biology

Rab32 uses its effector reticulon 3L to trigger autophagic degradation of mitochondria-associated membrane (MAM) proteins

Maria Sol Herrera-Cruz et al.

Summary: Rab32 promotes degradation of mitochondrial-proximal ER membranes via autophagy with the help of its effector RTN3L, a process proposed to be termed MAM-phagy.

BIOLOGY DIRECT (2021)

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Review Biochemistry & Molecular Biology

Chromatin Regulation throuch Ubiquitin and Ubiquitin-like Histone Modifications

Robert M. Vaughan et al.

Summary: Chromatin functions are influenced by histone post-translational modifications, particularly ubiquitin and ubiquitin-like modifications which act as signaling molecules. Recent discoveries have shown the importance of histone ubiquitination in DNA methylation control, PTM crosstalk, nucleosome structure, and phase separation, while the diversity and functions associated with histone UBL modifications continue to expand. The future holds key questions that will further drive discovery at the intersection of epigenetics and ubiquitin signaling.

TRENDS IN BIOCHEMICAL SCIENCES (2021)

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Review Cell Biology

Roe of GTPases in Driving Mitoribosome Assembly

Priyanka Maiti et al.

Summary: This review summarizes recent progress in the understanding of mitoribosome assembly GTPases, describing their features, mechanisms of action, and possible roles in the formation of mitoribosomal subunits. The authors also propose a unified nomenclature for mitoribosome assembly GTPases following the recent nomenclature unification for mitoribosomal proteins.

TRENDS IN CELL BIOLOGY (2021)

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Review Biochemistry & Molecular Biology

Mechanotransduction at the Plasma Membrane-Cytoskeleton Interface

Ivan P. Uray et al.

Summary: Mechanical signals are crucial for the survival, adaptation, and normal functioning of cells. Mechanotransduction, the process of converting mechanical information into intracellular biochemical signals, plays a key role in physiological and pathological processes.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Cell Biology

HDAC6 in Diseases of Cognition and of Neurons

Patrizia LoPresti

Summary: Recent research has shown that HDAC6 in healthy neurons regulates intracellular transport, neurotransmitter release, and aggregate formation by modulating the acetylation of non-histone proteins. In pathological conditions, abundant HDAC6 in the nucleus leads to detrimental effects on transcription regulation and synapses. Therefore, HDAC6 plays a crucial role in neuronal health or dysfunction.

CELLS (2021)

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Article Biochemistry & Molecular Biology

Impaired mitochondrial quality control in Rett Syndrome

Ilaria Crivellari et al.

Summary: Rett Syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females, caused by mutations in the X linked MECP2 gene. The pathogenic mechanisms leading to the diverse symptoms are still unclear, but alterations in redox homeostasis may play a role. Research has shown that RTT patients exhibit mitochondrial abnormalities, including morphological abnormalities and increased volume.

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2021)

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Editorial Material Cell Biology

Introducing secretory reticulophagy/ER-phagy (SERP), a VAMP7-dependent pathway involved in neurite growth

Somya Vats et al.

Summary: SERP, a secretory mechanism bypassing the Golgi apparatus, plays a crucial role in releasing ER elements and promoting neurite growth. In the absence of macroautophagy, SERP becomes more efficient in promoting secretion of specific proteins and altering neuronal polarity.

AUTOPHAGY (2021)

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Article Biochemistry & Molecular Biology

ISG15 attenuates post-translational modifications of mitofusins and congression of damaged mitochondria in Ataxia Telangiectasia cells

Meredith Juncker et al.

Summary: The study reveals defective mitophagy in neurodegenerative diseases such as Ataxia Telangiectasia and Amyotrophic Lateral Sclerosis, which is associated with constitutively elevated ISG15 pathway. Inhibition of the ISG15 pathway restores mitophagy, reduces oxidative stress, and unhealthy mitochondria levels, suggesting a potential therapeutic avenue for neurodegenerative disorders.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2021)

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Article Biochemistry & Molecular Biology

HDAC6 inhibition restores TDP-43 pathology and axonal transport defects in human motor neurons with TARDBP mutations

Raheem Fazal et al.

Summary: The study investigated TDP-43 protein behavior in iPSC-derived motor neurons from ALS patients with TARDBP mutations, revealing various TDP-43 changes. Mutant TDP-43 was found to initiate disease phenotypes and have an altered interactome, leading to defects in mitochondrial transport. Pharmacological inhibition of HDAC6 restored TDP-43 pathologies and axonal mitochondrial motility, suggesting a potential therapeutic target for TDP-43-linked neurodegenerative disorders.

EMBO JOURNAL (2021)

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Article Cell Biology

Amyotrophic lateral sclerosis-associated Vap33 is required for maintaining neuronal dendrite morphology and organelle distribution in Drosophila

Kosuke Kamemura et al.

Summary: The study revealed the essential role of Vap33 in maintaining neuronal morphology and organelle distribution, and suggested that ALS-associated mutations may affect neuronal function by influencing synaptic protein localization and ER quality control.

GENES TO CELLS (2021)

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Article Cell Biology

FOXG1 promotes aging inner ear hair cell survival through activation of the autophagy pathway

Zu-Hong He et al.

Summary: Presbycusis, the result of aging on hearing, is closely related to common mitochondrial gene deletions. This study found that FOXG1 plays a crucial role in the degeneration process of the auditory system through regulation of autophagy. Aspirin was also found to increase FOXG1 expression and activate autophagy, suggesting a potential treatment for age-related hearing loss.

AUTOPHAGY (2021)

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Article Cell Biology

Augmenting ATG14 alleviates atherosclerosis and inhibits inflammation via promotion of autophagosome-lysosome fusion in macrophages

Hui Zhang et al.

Summary: The dysfunction of autophagy in macrophages contributes to the development of atherosclerosis, with ATG14 playing a crucial role in regulating the fusion of autophagosomes with lysosomes. Impaired autophagy function due to reduced ATG14 expression was observed in macrophages of atherosclerotic plaques, and overexpression of ATG14 promoted autophagy, lipid degradation, and reduced inflammation, thereby alleviating atherosclerotic lesions in mice.

AUTOPHAGY (2021)

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Article Clinical Neurology

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia

Edoardo Monfrini et al.

Summary: The HOPS complex is essential for the fusion of late endosomes and autophagosomes with lysosomes, playing a key role in the pathogenesis of certain inherited dystonias. Mutations in genes encoding HOPS complex proteins lead to abnormalities in lysosomal and autophagic compartments, confirming the link between lysosomal dysfunction and dystonia and encouraging the search for innovative therapies targeting this pathway.

BRAIN (2021)

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Review Biochemistry & Molecular Biology

Histone Methylation Regulation in Neurodegenerative Disorders

Balapal S. Basavarajappa et al.

Summary: Advances in molecular biology and genomics have uncovered the critical role of epigenetic mechanisms, particularly histone methylation, in neurodegenerative disorders. Potential therapeutic targets, such as histone methyltransferases and demethylases, offer promising avenues for treatment and prevention. These findings bridge molecular-level changes with behavioral differences and present new opportunities for early intervention in individuals at risk for neurodegenerative disorders.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Neurosciences

Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson's disease brain

Lilah Toker et al.

Summary: Parkinson's disease is a complex neurodegenerative disorder associated with mitochondrial dysfunction and epigenetic dysregulation. Research found increased histone acetylation levels in PD, particularly at the H3K27 site, and a decoupling between H3K27 acetylation and gene expression in the disease, especially among nuclear-encoded mitochondrial genes. This suggests aberrant histone acetylation and altered transcriptional regulation play a role in the pathophysiology of PD.

MOLECULAR NEURODEGENERATION (2021)

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Article Multidisciplinary Sciences

A conformational switch driven by phosphorylation regulates the activity of the evolutionarily conserved SNARE Ykt6

Kaitlyn McGrath et al.

Summary: Ykt6, a soluble SNARE protein, plays a critical role in vesicular fusion pathways. Phosphorylation at a conserved site triggers a conformational change, leading to altered protein interactions and enhanced toxicity in PD models. This study reveals a mechanism regulating Ykt6 conformation and activity with potential implications for Parkinson's disease.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

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Article Multidisciplinary Sciences

Dysregulation of mitochondria-lysosome contacts by GBA1 dysfunction in dopaminergic neuronal models of Parkinson's disease

Soojin Kim et al.

Summary: Mitochondria-lysosome contacts play a crucial role in mediating crosstalk between organelles in human neurons, with defects observed in Parkinson's disease patient derived neurons harboring mutant GBA1 due to dysregulation of TBC1D15 caused by decreased GBA1 activity.

NATURE COMMUNICATIONS (2021)

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Review Cell Biology

Autophagic Organelles in DNA Damage Response

Jeongha Kim et al.

Summary: Autophagy is crucial for maintaining cellular homeostasis through degrading cargo proteins and malfunctioning organelles. It is activated in response to cellular stresses like nutrient deprivation and DNA damage to reduce damage and restore homeostasis. Involvement of autophagy in repair and elimination of DNA aberrations is essential for cell survival, with autophagy playing a key role in removing impaired organelles caused by DNA damaging agents.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

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Review Cell Biology

Regulatory mechanisms governing chromatin organization and function

Rodrigo Villasenor et al.

Summary: Nucleosomes are basic structures used to package genetic information, subject to diverse chemical modifications. These modifications serve as interaction hubs for nuclear proteins, ensuring correct deposition to the genome. The regulation of chromatin marks relies on coordinated activities of writer, eraser, and reader enzymes, often depending on complex multicomponent regulatory circuits.

CURRENT OPINION IN CELL BIOLOGY (2021)

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Review Biochemistry & Molecular Biology

Unraveling Axon Guidance during Axotomy and Regeneration

Miguel E. Dominguez-Romero et al.

Summary: The growth cone is a critical structure during neuronal development and regeneration, detecting and integrating signals to reach its final destination. After neuronal injuries in mammals, only axons in the peripheral nervous system are able to regenerate, while the ones from the central nervous system fail to do so.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Neurosciences

Operative list of genes associated with autism and neurodevelopmental disorders based on database review

Claire S. Leblond et al.

Summary: The genetics of neurodevelopmental disorders has identified over 1,500 genes associated with conditions such as intellectual disability and autism, with these genes being expressed in early fetal brain development and enriched in various biological pathways. A list of high confidence NDD genes has been compiled for interpretation of large scale omics datasets or for diagnostic purposes. Genes related to synapses are a significant proportion of this gene set and are expressed in the cerebellum and cortex of the human brain.

MOLECULAR AND CELLULAR NEUROSCIENCE (2021)

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Article Cell Biology

VPS13D interacts with VCP/p97 and negatively regulates endoplasmic reticulum-mitochondria interactions

Yuanjiao Du et al.

Summary: This study demonstrates the key role of VPS13D in negatively regulating ER-mitochondria MCSs, partially through interactions with VCP/p97 to control the level of ER-resident VAPB. Suppression of VPS13D leads to severe defects in mitochondrial morphology, distribution, and DNA synthesis. These results suggest a novel mechanism for the regulation of ER-mitochondria interactions and their impact on cellular functions.

MOLECULAR BIOLOGY OF THE CELL (2021)

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Article Cell Biology

Alpha-Synuclein defects autophagy by impairing SNAP29-mediated autophagosome-lysosome fusion

Qilin Tang et al.

Summary: The study reveals that alpha-Syn impairs autophagy turnover by reducing the fusion of autophagosomes with lysosomes, leading to a decrease in the formation of autolysosomes. Additionally, alpha-Syn increases the number of extracellular vesicles and the abundance of autophagy-associated proteins in these vesicles. Mechanistically, alpha-Syn decreases the abundance of the v-SNARE protein SNAP29, impacting autophagolysosome fusion and ultimately influencing DA neuronal cell death.

CELL DEATH & DISEASE (2021)

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Article Multidisciplinary Sciences

Structural basis of GTPase-mediated mitochondrial ribosome biogenesis and recycling

Hauke S. Hillen et al.

Summary: The study elucidates the mechanism of GTPase-driven maturation of the human mitochondrial large ribosomal subunit (mtLSU) using endogenous complex purification, in vitro reconstitution and cryo-EM. It reveals how biogenesis factors like GTPBP5, MTERF4, and NSUN4 facilitate the folding of the peptidyl transferase center (PTC). The research also demonstrates the dual-role of GTPBP6 in ribosome biogenesis and recycling through structural analysis of mature mitochondrial ribosomes treated with GTPBP6.

NATURE COMMUNICATIONS (2021)

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Review Neurosciences

HDAC6: A Key Link Between Mitochondria and Development of Peripheral Neuropathy

Krystal English et al.

Summary: Peripheral neuropathy, resulting from nerve damage, is a major health concern with neuropathic pain as a common manifestation. Recent evidence suggests that mitochondrial dysfunction, regulated by HDAC6, plays a significant role in the development of peripheral neuropathy and neuropathic pain. HDAC6 inhibitors are being investigated as potential therapies for various peripheral neuropathic disorders, showing promise in alleviating symptoms associated with mitochondrial dysfunction.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2021)

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Article Genetics & Heredity

Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern

Luciane Simonetti et al.

Summary: Our study suggests that the variability in IQ scores in Klinefelter syndrome patients may be associated with the X-chromosome inactivation (XCI) pattern. Individuals with random X-inactivation (RXI) showed lower average IQ compared to those with skewed X-inactivation (SXI). Furthermore, higher expression of GTPBP6 gene in KS patients with RXI was negatively associated with full-scale IQ levels.

FRONTIERS IN GENETICS (2021)

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Article Cell Biology

Metabolomic Fingerprint of Mecp2-Deficient Mouse Cortex: Evidence for a Pronounced Multi-Facetted Metabolic Component in Rett Syndrome

Gocha Golubiani et al.

Summary: Using unsupervised metabolomics, this study identified 101 significantly deregulated metabolites in the cortex of Mecp2-deficient adult male mice with Rett syndrome. Pathway analysis revealed 31 mostly upregulated metabolic pathways, providing further insights into the complex pathogenesis of RTT.

CELLS (2021)

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Review Cell Biology

The Link between VAPB Loss of Function and Amyotrophic Lateral Sclerosis

Nica Borgese et al.

Summary: VAP proteins are essential adaptor proteins of the ER membrane that can recruit interacting partners, with mutations leading to familial ALS. Deficiency of VAPB affects various cell processes, potentially being the main driver of ALS pathogenesis.

CELLS (2021)

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Review Cell Biology

Single-Molecule Techniques to Study Chromatin

Anna Chanou et al.

Summary: It has been discovered that eukaryotic chromatin is further packed through interactions with numerous protein complexes, providing a template for important biological processes such as DNA replication, transcription, and repair. Therefore, single-molecule approaches are essential for overcoming chromatin heterogeneity and monitoring chromatin transactions in real-time.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

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Review Cell Biology

Epigenetic Regulation of Autophagy Beyond the Cytoplasm: A Review

Yin Shi et al.

Summary: Autophagy is a highly conserved catabolic process that protects cells from harm and allows survival under stress conditions. The regulation of autophagy is complex, involving various signaling pathways including AMPK and mTOR. Understanding these regulatory mechanisms can lead to the discovery of new therapeutic targets.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

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Review Biochemistry & Molecular Biology

Transcriptomic and Epigenomic Landscape in Rett Syndrome

Domenico Marano et al.

Summary: Rett syndrome is a severely disabling developmental disorder, with the majority of cases caused by de novo mutations in the X-linked MECP2 gene. MeCP2 plays a crucial role in organizing global chromatin architecture, interacting with multiple molecular partners, and triggering various downstream mechanisms. Defects in MeCP2 lead to large-scale alterations of the epigenome, affecting transcription of protein-coding and non-coding genes with critical consequences on downstream biological processes.

BIOMOLECULES (2021)

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Article Biochemistry & Molecular Biology

A conserved Neurite Outgrowth and Guidance motif with biomimetic potential in neuronal Cell Adhesion Molecules

Giorgia Scapin et al.

Summary: The discovery of conserved protein motifs can reveal important regulatory signals, and synthetic peptides derived from such motifs can be used as biomimetics for biotechnological and therapeutic purposes. Specific Ig-like repeats from neuronal Cell Adhesion Molecules share a highly conserved Neurite Outgrowth and Guidance (NOG) motif, which can boost neurite formation.

COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (2021)

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Article Cell Biology

DIPK2A promotes STX17-and VAMP7-mediated autophagosome-lysosome fusion by binding to VAMP7B

Xiaoyu Tian et al.

AUTOPHAGY (2020)

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Review Cell Biology

Mitochondria at the interface between neurodegeneration and neuroinflammation

Verian Bader et al.

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2020)

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Review Pathology

Mitochondrial Dynamics and Its Involvement in Disease

David C. Chan

ANNUAL REVIEW OF PATHOLOGY: MECHANISMS OF DISEASE, VOL 15, 2020 (2020)

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Review Biochemistry & Molecular Biology

Niemann-Pick type C disease: cellular pathology and pharmacotherapy

Simon Wheeler et al.

JOURNAL OF NEUROCHEMISTRY (2020)

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Article Biochemistry & Molecular Biology

Novel HDAC6 Inhibitors Increase Tubulin Acetylation and Rescue Axonal Transport of Mitochondria in a Model of Charcot-Marie-Tooth Type 2F

Robert Adalbert et al.

ACS CHEMICAL NEUROSCIENCE (2020)

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Review Biochemistry & Molecular Biology

PINK1/Parkin Mediated Mitophagy, Ca2+ Signalling, and ER-Mitochondria Contacts in Parkinson's Disease

Lucia Barazzuol et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

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Article Cell Biology

Mfn2 Ablation in the Adult Mouse Hippocampus and Cortex Causes Neuronal Death

Song Han et al.

CELLS (2020)

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Article Biochemistry & Molecular Biology

PINK1-dependent phosphorylation of Serine111 within the SF3 motif of Rab GTPases impairs effector interactions and LRRK2-mediated phosphorylation at Threonine72

Sophie Vieweg et al.

BIOCHEMICAL JOURNAL (2020)

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Article Neurosciences

Neuroglial transmitophagy and Parkinson's disease

Ingrid Morales et al.

GLIA (2020)

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Article Biochemistry & Molecular Biology

Correction of Niemann-Pick type C1 trafficking and activity with the histone deacetylase inhibitor valproic acid

Kanagaraj Subramanian et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2020)

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Review Genetics & Heredity

Epigenetic Factors that Control Pericentric Heterochromatin Organization in Mammals

Salvatore Fioriniello et al.

GENES (2020)

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Review Cell Biology

Parkinson's: A Disease of Aberrant Vesicle Trafficking

Pawan Kishor Singh et al.

ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY, VOL 36, 2020 (2020)

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Article Biochemistry & Molecular Biology

Proteomic pro fi ling reveals mitochondrial alterations in Rett syndrome

Vittoria Cicaloni et al.

FREE RADICAL BIOLOGY AND MEDICINE (2020)

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Article Cell Biology

Chromatin regulators and their impact on DNA repair and G2 checkpoint recovery

Veronique A. J. Smits et al.

CELL CYCLE (2020)

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Review Neurosciences

LRRK2 and α-Synuclein: Distinct or Synergistic Players in Parkinson's Disease?

Darren M. O'Hara et al.

FRONTIERS IN NEUROSCIENCE (2020)

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Review Neurosciences

Mitochondrial Dysfunction, Neurogenesis, and Epigenetics: Putative Implications for Amyotrophic Lateral Sclerosis Neurodegeneration and Treatment

Michele Longoni Calio et al.

FRONTIERS IN NEUROSCIENCE (2020)

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Review Cell Biology

Organelle Cooperation in Stem Cell Fate: Lysosomes as Emerging Regulators of Cell Identity

Lisa M. Julian et al.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2020)

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Article Neurosciences

Vitamin D Supplementation Rescues Aberrant NF-κB Pathway Activation and Partially Ameliorates Rett Syndrome Phenotypes in Mecp2 Mutant Mice

Mayara C. Ribeiro et al.

ENEURO (2020)

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Article Genetics & Heredity

Reevaluating the roles of histone-modifying enzymes and their associated chromatin modifications in transcriptional regulation

Marc A. J. Morgan et al.

NATURE GENETICS (2020)

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Article Cell Biology

Role of VAMP7-Dependent Secretion of Reticulon 3 in Neurite Growth

Jose Wojnacki et al.

CELL REPORTS (2020)

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Review Oncology

Mitochondrial metabolism and DNA methylation: a review of the interaction between two genomes

Amanda F. C. Lopes

CLINICAL EPIGENETICS (2020)

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Article Neurosciences

Rare VPS35 A320V Variant in Taiwanese Parkinson's Disease Indicates Disrupted CI-MPR Sorting and Impaired Mitochondrial Morphology

Yih-Ru Wu et al.

BRAIN SCIENCES (2020)

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Article Biotechnology & Applied Microbiology

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways

Mazhor Aldosary et al.

OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY (2020)

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Review Biochemistry & Molecular Biology

Multiple functions of the ER-resident VAP and its extracellular role in neural development and disease

Kosuke Kamemura et al.

JOURNAL OF BIOCHEMISTRY (2019)

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Article Behavioral Sciences

Disturbed redox homeostasis and oxidative stress: Potential players in the developmental regression in Rett syndrome

Michael Mueller

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2019)

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Article Dermatology

CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene

Shital Poojary et al.

PEDIATRIC DERMATOLOGY (2019)

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Article Multidisciplinary Sciences

A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development

Valeria Mastrodonato et al.

SCIENTIFIC REPORTS (2019)

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Article Medicine, Research & Experimental

Global brain ischemia in rats is associated with mitochondrial release and downregulation of Mfn2 in the cerebral cortex, but not the hippocampus

Katarina Klacanova et al.

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2019)

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Review Cell Biology

CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease

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