| Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family. | Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family.
Algahtani H, Shirah B, Naseer MI. | 05/21/2024 |
| Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders. | Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.
Sultan T, Scorrano G, Panciroli M, Christoforou M, Raza Alvi J, Di Ludovico A, Qureshi S, Efthymiou S, Salpietro V, Houlden H. | 02/2/2024 |
| Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing. | Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing.
Qiao Y, Shao T, Chen Y, Chen J, Sun X, Chen X. | 03/24/2023 |
| Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. | Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
Pauly MG, Brüggemann N, Efthymiou S, Grözinger A, Diaw SH, Chelban V, Turchetti V, Vona B, Tadic V, Houlden H, Münchau A, Lohmann K., Free PMC Article | 02/16/2023 |
| VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population. | VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.
Öztop-Çakmak Ö, Şimşir G, Tekgül Ş, Aygün MS, Gökler O, Kahyaoğlu B, Kaya ZE, Palvadeau R, Başak AN, Ertan S. | 12/3/2022 |
| Vmp1, Vps13D, and Marf/Mfn2 function in a conserved pathway to regulate mitochondria and ER contact in development and disease. | Vmp1, Vps13D, and Marf/Mfn2 function in a conserved pathway to regulate mitochondria and ER contact in development and disease.
Shen JL, Fortier TM, Zhao YG, Wang R, Burmeister M, Baehrecke EH., Free PMC Article | 07/9/2022 |
| VPS13D interacts with VCP/p97 and negatively regulates endoplasmic reticulum-mitochondria interactions. | VPS13D interacts with VCP/p97 and negatively regulates endoplasmic reticulum-mitochondria interactions.
Du Y, Wang J, Xiong J, Fang N, Ji WK., Free PMC Article | 01/15/2022 |
| VPS13D bridges the ER to mitochondria and peroxisomes via Miro. | VPS13D bridges the ER to mitochondria and peroxisomes via Miro.
Guillén-Samander A, Leonzino M, Hanna MG, Tang N, Shen H, De Camilli P., Free PMC Article | 10/2/2021 |
| VPS13D promotes peroxisome biogenesis. | VPS13D promotes peroxisome biogenesis.
Baldwin HA, Wang C, Kanfer G, Shah HV, Velayos-Baeza A, Dulovic-Mahlow M, Brüggemann N, Anding A, Baehrecke EH, Maric D, Prinz WA, Youle RJ., Free PMC Article | 10/2/2021 |
| Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes. | Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee JS, Yoo T, Lee M, Lee Y, Jeon E, Kim SY, Lim BC, Kim KJ, Choi M, Chae JH. | 06/5/2021 |
| A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13. | A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13.
Dziurdzik SK, Bean BDM, Davey M, Conibear E., Free PMC Article | 06/5/2021 |
| The lncRNA Snhg1-Vps13D vesicle trafficking system promotes memory CD8 T cell establishment via regulating the dual effects of IL-7 signaling. | The lncRNA Snhg1-Vps13D vesicle trafficking system promotes memory CD8 T cell establishment via regulating the dual effects of IL-7 signaling.
Zhang Y, Li B, Bai Q, Wang P, Wei G, Li Z, Hu L, Tian Q, Zhou J, Huang Q, Wang Z, Yue S, Wu J, Yang L, Zhou X, Jiang L, Ni T, Ye L, Wu Y., Free PMC Article | 04/17/2021 |
| VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia. | VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.
Koh K, Ishiura H, Shimazaki H, Tsutsumiuchi M, Ichinose Y, Nan H, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y., Free PMC Article | 04/3/2021 |
| An ESCRT-dependent step in fatty acid transfer from lipid droplets to mitochondria through VPS13D-TSG101 interactions. | An ESCRT-dependent step in fatty acid transfer from lipid droplets to mitochondria through VPS13D-TSG101 interactions.
Wang J, Fang N, Xiong J, Du Y, Cao Y, Ji WK., Free PMC Article | 03/6/2021 |
| heterozygous mutations in VPS13D cause movement disorders along the ataxia-spasticity spectrum | Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M., Free PMC Article | 08/17/2019 |
| findings underline the importance of the VPS13 complex in neurological diseases and a possible role in mitochondrial function | Recessive mutations in VPS13D cause childhood onset movement disorders.
Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, Henderson LB, Lorenzo K, Wallace SE, Glass IA, Hamdan FF, Michaud JL, Rouleau GA, Campeau PM. | 08/17/2019 |
| genetic polymorphism is associated with il-6 production and mortality in patients with septic shock | VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock.
Nakada TA, Boyd JH, Russell JA, Aguirre-Hernández R, Wilkinson MD, Thair SA, Nakada E, McConechy MK, Fjell CD, Walley KR., Free PMC Article | 06/28/2016 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population.
Koriyama H, Nakagami H, Katsuya T, Sugimoto K, Yamashita H, Takami Y, Maeda S, Kubo M, Takahashi A, Nakamura Y, Ogihara T, Rakugi H, Kaneda Y, Morishita R. | 09/15/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |