{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Liao P"],"funding":["Natural Science Fund for Distinguished Young Scholars of Hunan Province, China","Discipline Innovative Engineering Plan (111 Program) of China","National Key R&D Program of China","National Major Projects in Brain Science and Brain-like Research","NIDDK NIH HHS","Project Program of National Clinical Research Center for Geriatric Disorders at Xiangya Hospital","Program of the National Natural Science Foundation of China","innovation-driven team project from Central South University","National Key Research and Development Program of China","Key Research and Development Programs from Hunan Province","innovative team program from Hunan Province"],"pagination":["46"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9597953"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(1)"],"pubmed_abstract":["Background
Amyotrophic lateral sclerosis (ALS) is a devastating progressive neurodegenerative disease that affects neurons in the central nervous system and the spinal cord. As in many other neurodegenerative disorders, the genetic risk factors and pathogenesis of ALS involve dysregulation of cytoskeleton and neuronal transport. Notably, sensory and motor neuron diseases such as hereditary sensory and autonomic neuropathy type 2 (HSAN2) and spastic paraplegia 30 (SPG30) share several causative genes with ALS, as well as having common clinical phenotypes. KIF1A encodes a kinesin 3 motor that transports presynaptic vesicle precursors (SVPs) and dense core vesicles and has been reported as a causative gene for HSAN2 and SPG30.Methods
Here, we analyzed whole-exome sequencing da"],"journal":["Translational neurodegeneration"],"pubmed_title":["Association of variants in the KIF1A gene with amyotrophic lateral sclerosis."],"pmcid":["PMC9597953"],"funding_grant_id":["R56 DK002001","B13036","2018YFC1312003","2021ZD0201803","2020CX016","81300981","81671120","2020LNJJ13","2021YFA0805200","82171431","31872778","2021DK2001","2019RS1010","82171506","2020JJ2057","R01 DK002001"],"pubmed_authors":["Shen L","Zhang K","Hu Z","Jiang H","Tang B","Hou X","Wang J","Li W","Liu Z","Wen J","Jiao B","Guo J","Zhang Z","Liao P","Yuan Y"],"additional_accession":[]},"is_claimable":false,"name":"Association of variants in the KIF1A gene with amyotrophic lateral sclerosis.","description":"Background
Amyotrophic lateral sclerosis (ALS) is a devastating progressive neurodegenerative disease that affects neurons in the central nervous system and the spinal cord. As in many other neurodegenerative disorders, the genetic risk factors and pathogenesis of ALS involve dysregulation of cytoskeleton and neuronal transport. Notably, sensory and motor neuron diseases such as hereditary sensory and autonomic neuropathy type 2 (HSAN2) and spastic paraplegia 30 (SPG30) share several causative genes with ALS, as well as having common clinical phenotypes. KIF1A encodes a kinesin 3 motor that transports presynaptic vesicle precursors (SVPs) and dense core vesicles and has been reported as a causative gene for HSAN2 and SPG30.Methods
Here, we analyzed whole-exome sequencing da","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-07-14T15:54:51.708Z","creation":"2025-04-19T06:35:46.54Z"},"accession":"S-EPMC9597953","cross_references":{"pubmed":["36284339"],"doi":["10.1186/s40035-022-00320-2"]}}