Associated Papers
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy.
Sait H et al.
American Journal of Medical Genetics. Part A, 2023
Prospects for gene replacement therapies in amyotrophic lateral sclerosis.
Giovannelli I et al.
Nature Reviews. Neurology, 2023
Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression.
Liu CY et al.
Journal of Clinical Neurology (seoul, Korea), 2022
FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.
Umair M et al.
Molecular Syndromology, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
33854469 (PubMed )
Supplement: Table_1.XLSX › Genes
Roles for a lipid phosphatase in the activation of its opposing lipid kinase.
Strunk BS et al.
Molecular Biology of the Cell, 2020
FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.
Bharadwaj R et al.
Human Molecular Genetics, 2016
The FIG4 gene does not play a major role in causing ALS in Italian patients.
Verdiani S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: implication for protein aggregation and immune response.
Bendotti C et al.
Progress in Neurobiology, 2012
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Chow CY et al.
American Journal of Human Genetics, 2009
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