Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic <i>de novo</i> Missense Variant in <i>KIF1A</i>
Author:
Affiliation:
1. Center for Medical Genetics, Shinshu University Hospital, Japan
2. Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/62/20/62_1184-22/_pdf
Reference15 articles.
1. 1. Hirokawa N, Noda Y, Tanaka Y, Niwa S. Kinesin superfamily motor proteins and intracellular transport. Nat Rev Mol Cell Biol 10: 682-696, 2009.
2. 2. Okada Y, Yamazaki H, Sekine-Aizawa Y, Hirokawa N. The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors. Cell 81: 769-780, 1995.
3. 3. Riviere JB, Ramalingam S, Lavastre V, et al. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet 89: 219-230, 2011.
4. 4. Erlich Y, Edvardson S, Hodges E, et al. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res 21: 658-664, 2011.
5. 5. Hamdan FF, Gauthier J, Araki Y, et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet 88: 306-316, 2011.
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