Literature DB >> 34307758

VPS13D: One Family, Same Mutations, Two Phenotypes.

Jan Niklas Petry-Schmelzer1, Natalie Keller2,3, Mert Karakaya2,3, Brunhilde Wirth2,3, Gereon R Fink1,4, Gilbert Wunderlich1,3.   

Abstract

Entities:  

Keywords:  VPS13D; phenotype–genotype correlation

Year:  2021        PMID： 34307758      PMCID： PMC8287157          DOI： 10.1002/mdc3.13232

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  7 in total

1.  Recessive mutations in VPS13D cause childhood onset movement disorders.

Authors:  Julie Gauthier; Inge A Meijer; Davor Lessel; Niccolò E Mencacci; Dimitri Krainc; Maja Hempel; Konstantinos Tsiakas; Holger Prokisch; Elsa Rossignol; Margaret H Helm; Lance H Rodan; Jason Karamchandani; Miryam Carecchio; Steven J Lubbe; Aida Telegrafi; Lindsay B Henderson; Kerry Lorenzo; Stephanie E Wallace; Ian A Glass; Fadi F Hamdan; Jacques L Michaud; Guy A Rouleau; Philippe M Campeau
Journal:  Ann Neurol       Date:  2018-04-10       Impact factor: 10.422

2.  Vps13D Encodes a Ubiquitin-Binding Protein that Is Required for the Regulation of Mitochondrial Size and Clearance.

Authors:  Allyson L Anding; Chunxin Wang; Tsun-Kai Chang; Danielle A Sliter; Christine M Powers; Kay Hofmann; Richard J Youle; Eric H Baehrecke
Journal:  Curr Biol       Date:  2018-01-04       Impact factor: 10.834

3.  Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.

Authors:  Akiyuki Tomiyasu; Masayuki Nakamura; Mio Ichiba; Shuichi Ueno; Shinji Saiki; Mizuki Morimoto; Jan Kobal; Yasufumi Kageyama; Toshio Inui; Koichi Wakabayashi; Tatsuo Yamada; Yuji Kanemori; Hans H Jung; Haruhiko Tanaka; Satoshi Orimo; Zaid Afawi; Ilan Blatt; Jan Aasly; Hiroshi Ujike; Dusica Babovic-Vuksanovic; Keith A Josephs; Rie Tohge; Guilherme Riccioppo Rodrigues; Nicolas Dupré; Hidetaka Yamada; Fusako Yokochi; Katya Kotschet; Takanobu Takei; Monika Rudzińska; Andrzej Szczudlik; Silvana Penco; Masaki Fujiwara; Kana Tojo; Akira Sano
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2011-05-19       Impact factor: 3.568

4.  Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

Authors:  Eunju Seong; Ryan Insolera; Marija Dulovic; Erik-Jan Kamsteeg; Joanne Trinh; Norbert Brüggemann; Erin Sandford; Sheng Li; Ayse Bilge Ozel; Jun Z Li; Tamison Jewett; Anneke J A Kievit; Alexander Münchau; Vikram Shakkottai; Christine Klein; Catherine A Collins; Katja Lohmann; Bart P van de Warrenburg; Margit Burmeister
Journal:  Ann Neurol       Date:  2018-06-30       Impact factor: 10.422

5.  A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

Authors:  André Mégarbané; Rima Slim; Gudrun Nürnberg; Inga Ebermann; Peter Nürnberg; Hanno Jörn Bolz
Journal:  Eur J Hum Genet       Date:  2009-02-04       Impact factor: 4.246

6.  VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Authors:  Kishin Koh; Hiroyuki Ishiura; Haruo Shimazaki; Michiko Tsutsumiuchi; Yuta Ichinose; Haitian Nan; Shun Hamada; Toshihisa Ohtsuka; Shoji Tsuji; Yoshihisa Takiyama
Journal:  Mol Genet Genomic Med       Date:  2019-12-26       Impact factor: 2.183

7.  Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Authors:  Suzanne Lesage; Valérie Drouet; Elisa Majounie; Vincent Deramecourt; Maxime Jacoupy; Aude Nicolas; Florence Cormier-Dequaire; Sidi Mohamed Hassoun; Claire Pujol; Sorana Ciura; Zoi Erpapazoglou; Tatiana Usenko; Claude-Alain Maurage; Mourad Sahbatou; Stefan Liebau; Jinhui Ding; Basar Bilgic; Murat Emre; Nihan Erginel-Unaltuna; Gamze Guven; François Tison; Christine Tranchant; Marie Vidailhet; Jean-Christophe Corvol; Paul Krack; Anne-Louise Leutenegger; Michael A Nalls; Dena G Hernandez; Peter Heutink; J Raphael Gibbs; John Hardy; Nicholas W Wood; Thomas Gasser; Alexandra Durr; Jean-François Deleuze; Meriem Tazir; Alain Destée; Ebba Lohmann; Edor Kabashi; Andrew Singleton; Olga Corti; Alexis Brice
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025
  7 in total
  1 in total

1.  Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.

Authors:  Christelle M Durand; Chloé Angelini; Vincent Michaud; Claire Delleci; Isabelle Coupry; Cyril Goizet; Aurelien Trimouille
Journal:  BMC Neurol       Date:  2022-02-12       Impact factor: 2.474
  1 in total

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