4.3 Article

Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

Epidemiological investigation of spinal muscular atrophy in Japan

Mayuri Ito et al.

Summary: This study conducted a nationwide epidemiological survey of spinal muscular atrophy (SMA) in Japan, revealing a prevalence and incidence rates of the disease. It emphasized the importance of infantile onset cases and the need for newborn screening and prompt treatment to save lives.

BRAIN & DEVELOPMENT (2022)

Article Multidisciplinary Sciences

Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology

Koyo Tsujikawa et al.

Summary: This study identified the role of Filamin-A in promoting tau aggregation in progressive supranuclear palsy (PSP) patients without tau mutations. It found that nonmutated tau interacts with actin filaments through increased levels of Filamin-A, resulting in enhanced phosphorylation and insolubility of tau. The study also showed that reducing Filamin-A levels corrected aberrant tau levels in PSP cell cultures.

SCIENCE ADVANCES (2022)

Article Cell Biology

Mid1 is associated with androgen-dependent axonal vulnerability of motor neurons in spinal and bulbar muscular atrophy

Yosuke Ogura et al.

Summary: Spinal and bulbar muscular atrophy (SBMA) is an adult-onset neurodegenerative disease caused by the expansions of CAG repeats in the androgen receptor (AR) gene. This study found that upregulation of Mid1 gene expression in motor neurons contributes to vulnerability and axonogenesis defects in SBMA.

CELL DEATH & DISEASE (2022)

Article Medicine, Research & Experimental

Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS

Tomoki Hirunagi et al.

Summary: Research shows that UNA-modified CAG-siRNA can selectively suppress polyglutamine-expanded androgen receptor, successfully treating mutant proteins in an SBMA mouse model. Lipid nanoparticle-delivered CAG-siRNA also demonstrates efficient suppression of mutant proteins in the central nervous system and skeletal muscle of the SBMA mouse model.

MOLECULAR THERAPY-NUCLEIC ACIDS (2021)

Article Clinical Neurology

Cerebrospinal fluid MFG-E8 as a promising biomarker of amyotrophic lateral sclerosis

Biying Yang et al.

NEUROLOGICAL SCIENCES (2020)

Article Medicine, Research & Experimental

Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes

Natalia Rodriguez-Muela et al.

JOURNAL OF CLINICAL INVESTIGATION (2018)

Article Biochemistry & Molecular Biology

Aldehyde Dehydrogenases 1A2 Expression and Distribution are Potentially Associated with Neuron Death in Spinal Cord of Tg(SOD1*G93A)1 Gur Mice

Huiting Liang et al.

INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES (2017)

Article Genetics & Heredity

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy a literature review

Ingrid E. C. Verhaart et al.

ORPHANET JOURNAL OF RARE DISEASES (2017)

Review Cell Biology

Therapeutic strategies for spinal muscular atrophy: SMN and beyond

Melissa Bowerman et al.

DISEASE MODELS & MECHANISMS (2017)

Review Neurosciences

Mechanisms of neuronal homeostasis: Autophagy in the axon

Sandra Maday

BRAIN RESEARCH (2016)

Article Clinical Neurology

Galectin-1 deficiency improves axonal swelling of motor neurones in SOD1G93A transgenic mice

Y. Kobayakawa et al.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2015)

Article Multidisciplinary Sciences

Foxp1-mediated programming of limb-innervating motor neurons from mouse and human embryonic stem cells

Katrina L. Adams et al.

NATURE COMMUNICATIONS (2015)

Article Biochemical Research Methods

Trimmomatic: a flexible trimmer for Illumina sequence data

Anthony M. Bolger et al.

BIOINFORMATICS (2014)

Article Mathematical & Computational Biology

Compromised axonal functionality after neurodegeneration, concussion and/or traumatic brain injury

Pedro D. Maia et al.

JOURNAL OF COMPUTATIONAL NEUROSCIENCE (2014)

Review Biochemistry & Molecular Biology

Retinoic acid signaling in spinal cord development

Ricardo Lara-Ramirez et al.

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2013)

Article Multidisciplinary Sciences

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy

Zhenxi Zhang et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Multidisciplinary Sciences

FUS-regulated region- and cell-type-specific transcriptome is associated with cell selectivity in ALS/FTLD

Yusuke Fujioka et al.

SCIENTIFIC REPORTS (2013)

Review Biochemistry & Molecular Biology

Emerging roles for retinoids in regeneration and differentiation in normal and disease states

Lorraine J. Gudas

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2012)

Article Developmental Biology

Retinoic acid signalling during development

Muriel Rhinn et al.

DEVELOPMENT (2012)

Article Multidisciplinary Sciences

An integrated encyclopedia of DNA elements in the human genome

Ian Dunham et al.

NATURE (2012)

Article Biochemical Research Methods

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

Bo Li et al.

BMC BIOINFORMATICS (2011)

Article Clinical Neurology

Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy

Elisabet Dachs et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2011)

Article Neurosciences

Pluripotent Stem Cells for the Study of CNS Development

Timothy J. Petros et al.

Frontiers in Molecular Neuroscience (2011)

Article Biochemistry & Molecular Biology

Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy

Rocky G. Gogliotti et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)

Article Biochemical Research Methods

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

Mark D. Robinson et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

Markus Riessland et al.

HUMAN MOLECULAR GENETICS (2010)

Article Biochemistry & Molecular Biology

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

Thomas M. Wishart et al.

HUMAN MOLECULAR GENETICS (2010)

Review Neurosciences

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Arthur H. M. Burghes et al.

NATURE REVIEWS NEUROSCIENCE (2009)

Review Biochemistry & Molecular Biology

Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily

Satori A. Marchitti et al.

EXPERT OPINION ON DRUG METABOLISM & TOXICOLOGY (2008)

Review Genetics & Heredity

Retinoic acid in development:: towards an integrated view

Karen Niederreither et al.

NATURE REVIEWS GENETICS (2008)

Article Neurosciences

Induction of autophagy in axonal dystrophy and degeneration

Qing Jun Wang et al.

JOURNAL OF NEUROSCIENCE (2006)