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Year Number of Results
2001 3
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2007 4
2008 3
2009 4
2010 2
2011 6
2012 8
2013 3
2014 2
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2023 14
2024 4

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140 results

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Page 1
VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites.
Kumar N, Leonzino M, Hancock-Cerutti W, Horenkamp FA, Li P, Lees JA, Wheeler H, Reinisch KM, De Camilli P. Kumar N, et al. J Cell Biol. 2018 Oct 1;217(10):3625-3639. doi: 10.1083/jcb.201807019. Epub 2018 Aug 9. J Cell Biol. 2018. PMID: 30093493 Free PMC article.
Mutations in the human VPS13 genes are responsible for neurodevelopmental and neurodegenerative disorders including chorea acanthocytosis (VPS13A) and Parkinson's disease (VPS13C). ...In this study, we show that the N-terminal portion of VPS13 is tubular, with a hyd …
Mutations in the human VPS13 genes are responsible for neurodevelopmental and neurodegenerative disorders including chorea acanthocyt …
Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).
Chaudhari S, Ware AP, Jasti DB, Gorthi SP, Acharya LP, Bhat M, Mallya S, Satyamoorthy K. Chaudhari S, et al. Mol Genet Genomics. 2023 Jul;298(4):965-976. doi: 10.1007/s00438-023-02032-2. Epub 2023 May 20. Mol Genet Genomics. 2023. PMID: 37209156 Free PMC article.
A known homozygous pathogenic nonsense mutation (c.799C > T; p.R267X) in exon 11 of the VPS13A gene was identified in case 1 that resulted in a truncated protein. ...Mutation analysis revealed benign heterozygous variants in interacting partners of VPS13A …
A known homozygous pathogenic nonsense mutation (c.799C > T; p.R267X) in exon 11 of the VPS13A gene was identified in case …
Chorea-acanthocytosis.
Rashid S, Malek N, Krommyda M. Rashid S, et al. Pract Neurol. 2024 Jan 30:pn-2023-003981. doi: 10.1136/pn-2023-003981. Online ahead of print. Pract Neurol. 2024. PMID: 38290845
Three consecutive peripheral blood films were negative for acanthocytes. Whole-genome sequencing confirmed a mutation in VPS13A gene, consistent with autosomal recessive chorea-acanthocytosis....
Three consecutive peripheral blood films were negative for acanthocytes. Whole-genome sequencing confirmed a mutation in VPS13A ge …
Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.
Nishida Y, Nakamura M, Urata Y, Kasamo K, Hiwatashi H, Yokoyama I, Mizobuchi M, Sakurai K, Osaki Y, Morita Y, Watanabe M, Yoshida K, Yamane K, Miyakoshi N, Okiyama R, Ueda T, Wakasugi N, Saitoh Y, Sakamoto T, Takahashi Y, Shibano K, Tokuoka H, Hara A, Monma K, Ogata K, Kakuda K, Mochizuki H, Arai T, Araki M, Fujii T, Tsukita K, Sakamaki-Tsukita H, Sano A. Nishida Y, et al. Neurol Genet. 2019 May 1;5(3):e332. doi: 10.1212/NXG.0000000000000332. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31192303 Free PMC article.
METHODS: We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the VPS13A gene, and chorein Western blotting of erythrocyte ghosts. As the results of the analysis, 17 patients were molecularly diagnosed with C …
METHODS: We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the VPS13A …
A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte.
Jin S, Sun Z, Fang X, Chen H, Yang W, Wang S, Fan J. Jin S, et al. Neurol Sci. 2024 May;45(5):2057-2061. doi: 10.1007/s10072-023-07174-0. Epub 2023 Nov 21. Neurol Sci. 2024. PMID: 37985634 Review.
We later identified two novel pathogenic mutations in the patient's vacuolar protein sorting homolog 13 A (VPS13A) on chromosome 9q21 by targeted gene sequencing, and she was definitively diagnosed with "ChAc." ...
We later identified two novel pathogenic mutations in the patient's vacuolar protein sorting homolog 13 A (VPS13A) on chromosome 9q21 …
VPS13A knockdown impairs corticostriatal synaptic plasticity and locomotor behavior in a new mouse model of chorea-acanthocytosis.
García-García E, Ramón-Lainez A, Conde-Berriozabal S, Del Toro D, Escaramis G, Giralt A, Masana M, Alberch J, Rodríguez MJ. García-García E, et al. Neurobiol Dis. 2023 Oct 15;187:106292. doi: 10.1016/j.nbd.2023.106292. Epub 2023 Sep 13. Neurobiol Dis. 2023. PMID: 37714309 Free article.
Chorea-acanthocytosis (ChAc) is an inherited neurodegenerative movement disorder caused by VPS13A gene mutations leading to the absence of protein expression. The striatum is the most affected brain region in ChAc patients. However, the study of the VPS13A fu …
Chorea-acanthocytosis (ChAc) is an inherited neurodegenerative movement disorder caused by VPS13A gene mutations leading to th …
XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.
Peikert K, Hermann A, Danek A. Peikert K, et al. Transfus Med Hemother. 2022 Jan 25;49(1):4-12. doi: 10.1159/000521417. eCollection 2022 Feb. Transfus Med Hemother. 2022. PMID: 35221863 Free PMC article. Review.
Its use, if continued, must not prevent clinicians to seek a final diagnosis on the basis of molecular findings. The clinical similarity of MLS and VPS13A disease has long suggested some shared pathophysiology. Evidence for molecular interaction between XK, the McLeod prot …
Its use, if continued, must not prevent clinicians to seek a final diagnosis on the basis of molecular findings. The clinical similarity of …
Unraveling the Spatiotemporal Distribution of VPS13A in the Mouse Brain.
García-García E, Chaparro-Cabanillas N, Coll-Manzano A, Carreras-Caballé M, Giralt A, Del Toro D, Alberch J, Masana M, Rodríguez MJ. García-García E, et al. Int J Mol Sci. 2021 Dec 1;22(23):13018. doi: 10.3390/ijms222313018. Int J Mol Sci. 2021. PMID: 34884823 Free PMC article.
Loss-of-function mutations in the human vacuolar protein sorting the 13 homolog A (VPS13A) gene cause Chorea-acanthocytosis (ChAc), with selective degeneration of the striatum as the main neuropathologic feature. ...VPS13A mRNA and protein distributions were …
Loss-of-function mutations in the human vacuolar protein sorting the 13 homolog A (VPS13A) gene cause Chorea-acanthocytosis (C …
Biological Function and Clinical Value of VPS13A in Pan-Cancer Based on Bioinformatics Analysis.
Zhang XQ, Li L. Zhang XQ, et al. Int J Gen Med. 2021 Oct 16;14:6825-6838. doi: 10.2147/IJGM.S330256. eCollection 2021. Int J Gen Med. 2021. PMID: 34690502 Free PMC article.
JVENN was used for cross analysis, and Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) were used for gene enrichment analysis. RESULTS: VPS13A is highly expressed in most tumors, and gene expression is associated with progn …
JVENN was used for cross analysis, and Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) were used for …
Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review.
Shen Y, Liu X, Long X, Han C, Wan F, Fan W, Guo X, Ma K, Guo S, Wang L, Xia Y, Liu L, Huang J, Lin Z, Xiong N, Wang T. Shen Y, et al. Front Aging Neurosci. 2017 Apr 12;9:95. doi: 10.3389/fnagi.2017.00095. eCollection 2017. Front Aging Neurosci. 2017. PMID: 28446873 Free PMC article.
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome characterized by hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated serum biochemical indicators and acanthocytes detection in peripheral blood smear. Vacuolar p …
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome characterized by hyperkinetic movements, seizures, cognitive i …
140 results