PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy

Article Neurosciences

Rab7 reduces α-synuclein toxicity in rats and primary neurons

Eva M. Szego et al.

Summary: This study found that stimulating the autolysosomal degradation through the Rab7 pathway can reduce cellular impairments induced by alpha Syn and prevent neurodegeneration in PD.

EXPERIMENTAL NEUROLOGY (2022)

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Letter Genetics & Heredity

Genomic profiling in neuronal dyneinopathies and updated classifications

Hormos Salimi Dafsari et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Article Clinical Neurology

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Leslie E. Sanderson et al.

Summary: This study describes five unrelated families with nine affected individuals carrying homozygous variants in VPS41, leading to a progressive neurodevelopmental disorder. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder.

BRAIN (2021)

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Article Medicine, Research & Experimental

Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease

Kalliopi Sofou et al.

Summary: Patients with lysosomal storage disease-like symptoms were found to have homozygous mutations in VPS16, resulting in impaired cellular functions such as transferrin uptake and lysosomal accumulation, which were rescued by re-expression of VPS16. Disrupted vps16 expression in zebrafish led to developmental defects and similar lysosomal and autophagosomal accumulation in the brain. This expands the understanding of diseases resulting from mutations in HOPS/CORVET subunits.

EMBO MOLECULAR MEDICINE (2021)

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Review Biochemistry & Molecular Biology

Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review

Carlotta Spagnoli et al.

Summary: Despite advancements in next generation sequencing technologies and increased clinical interest in complex neurological phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), monogenic conditions characterized by neonatal onset epilepsy and/or DE/EE with development of an MD have been less extensively studied in the neonatal period compared to infancy. High genetic heterogeneity and low numbers of described patients were found in this review, with complex neurological phenotypes reflecting the involvement of genes crucial for early brain development. Future studies should focus on accurate neonatal epileptic phenotyping and detailed description of semiology and time-course of the associated movement disorders, especially for the rarest conditions.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Clinical Neurology

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

Claire G. Salter et al.

Summary: Biallelic PI4KA sequence alterations in humans are associated with neurological disease, particularly hypomyelinating leukodystrophy, as well as potentially causing inflammatory bowel disease, multiple intestinal atresia, and combined immunodeficiency. These phenotypical outcomes are likely due to impaired organ-specific functions of the PI4KIII alpha-TTC7-FAM126 complex resulting from defective catalytic activity or altered intra-complex functional interactions. The data defines PI4KA gene alteration as a cause of a variable phenotypical spectrum and provides new insight into the biology of the PI4KIII alpha-FAM126-TTC7-EFR3 molecular complex.

BRAIN (2021)

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Article Clinical Neurology

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Edgard Verdura et al.

Summary: Phosphoinositides are lipid molecules crucial for cellular signaling, ion channel activity, and membrane trafficking. Mutations in genes encoding proteins involved in their metabolism, such as the phosphoinositide kinase PI4KA, can lead to severe neurological or developmental disorders. This study identified 10 patients with biallelic variants in PI4KA, causing a range of conditions from global neurodevelopmental delay to spastic paraplegia, highlighting the importance of phosphoinositide signaling in human brain development and myelin sheath formation.

BRAIN (2021)

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Article Clinical Neurology

Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course

Reza Maroofian et al.

Summary: WIPI2, a member of the human WIPI protein family, plays a key role in autophagy and has been associated with neurodevelopmental disorders. Different mutations in the WIPI2 gene result in varying clinical phenotypes of neurodevelopmental disorders, expanding the understanding of WIPI2-related diseases.

BRAIN COMMUNICATIONS (2021)

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Article Genetics & Heredity

Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations

Rosanne Sprute et al.

Summary: Autosomal-recessive mutations in the ALS2 gene can cause childhood-onset progressive motor neuron diseases, with a specific range of clinical manifestations. Our study identified five novel pathogenic variants in ALS2, enriching the understanding of the mutational spectrum related to ALS2 disorders. The high detection rate of ALS2 mutations in early-onset MND patients was highlighted, along with the presence of unknown modifiers that influence phenotypic expression.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Article Endocrinology & Metabolism

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

Miski Mohamed et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2020)

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Article Clinical Neurology

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dora Steel et al.

ANNALS OF NEUROLOGY (2020)

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Article Multidisciplinary Sciences

Myelination of peripheral nerves is controlled by PI4KB through regulation of Schwann cell Golgi function

Takashi Baba et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)

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Article Biochemistry & Molecular Biology

Phosphatidylinositol 4,5-bisphosphate controls Rab7 and PLEKMH1 membrane cycling during autophagosome-lysosome fusion

Takashi Baba et al.

EMBO JOURNAL (2019)

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Article Medicine, Research & Experimental

Novel mutations in SLC6A5 with benign course in hyperekplexia

Hormos Salimi Dafsari et al.

COLD SPRING HARBOR MOLECULAR CASE STUDIES (2019)

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Article Cell Biology

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

E. Piano Mortari et al.

AUTOPHAGY (2018)

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Article Clinical Neurology

Neck-Tongue Syndrome: An Underrecognized Childhood Onset Cephalalgia

Nicholas M. Allen et al.

JOURNAL OF CHILD NEUROLOGY (2018)

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Article Cell Biology

Schwann-Cell-Specific Deletion of Phosphatidylinositol 4-Kinase Alpha Causes Aberrant Myelination

Alejandro Alvarez-Prats et al.

CELL REPORTS (2018)

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Article Clinical Neurology

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome

Reem A. Alkhater et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2018)

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Review Biochemistry & Molecular Biology

The Many Roles of Type II Phosphatidylinositol 4-Kinases in Membrane Trafficking: New Tricks for Old Dogs

Shane Minogue

BIOESSAYS (2018)

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Article Biochemistry & Molecular Biology

Rab7 induces clearance of α-synuclein aggregates

Elisabeth Dinter et al.

JOURNAL OF NEUROCHEMISTRY (2016)

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Article Biochemistry & Molecular Biology

The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes

Zheng Wang et al.

MOLECULAR CELL (2016)

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Article Biochemistry & Molecular Biology

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

Alistair T. Pagnamenta et al.

HUMAN MOLECULAR GENETICS (2015)

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Article Biochemistry & Molecular Biology

PI4KIIα phosphorylation by GSK3 directs vesicular trafficking to lysosomes

James W. Robinson et al.

BIOCHEMICAL JOURNAL (2014)

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Article Biochemistry & Molecular Biology

The crystal structure of the phosphatidylinositol 4-kinase IIα

Adriana Baumlova et al.

EMBO REPORTS (2014)

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Article Biochemistry & Molecular Biology

Pharmacological and Genetic Targeting of the PI4KA Enzyme Reveals Its Important Role in Maintaining Plasma Membrane Phosphatidylinositol 4-Phosphate and Phosphatidylinositol 4,5-Bisphosphate Levels

Naveen Bojjireddy et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2014)

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Article Cell Biology

A novel probe for phosphatidylinositol 4-phosphate reveals multiple pools beyond the Golgi

Gerald R. V. Hammond et al.

JOURNAL OF CELL BIOLOGY (2014)

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Article Genetics & Heredity

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup et al.

NATURE GENETICS (2013)

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Article Biochemistry & Molecular Biology

Hermansky-Pudlak Syndrome Protein Complexes Associate with Phosphatidylinositol 4-Kinase Type II α in Neuronal and Non-neuronal Cells

Gloria Salazar et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

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Article Multidisciplinary Sciences

Loss of phosphatidylinositol 4-kinase 2α activity causes late onset degeneration of spinal cord axons

J. Paul Simons et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

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Article Cell Biology

Phosphatidylinositol 4-kinase is required for endosomal trafficking and degradation of the EGF receptor

S Minogue et al.

JOURNAL OF CELL SCIENCE (2006)

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Article Cell Biology

Differential PI 3-kinase dependence of early and late phases of recycling of the internalized AT1 angiotensin receptor

L Hunyady et al.

JOURNAL OF CELL BIOLOGY (2002)

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Article Biochemistry & Molecular Biology

Characterization of type II phosphatidylinositol 4-kinase isoforms reveals association of the enzymes with endosomal vesicular compartments

A Balla et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2002)

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PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy

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