Literature DB >> 30452786

Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism.

Hossein Darvish1, Paloma Bravo2, Abbas Tafakhori3, Luis J Azcona2,4, Sakineh Ranji-Burachaloo3, Amir Hossein Johari1, Coro Paisán-Ruiz2,5,6,7,8.   

Abstract

Entities:  

Keywords:  VPS13C; early-onset parkinsonism; genomic deletion; polyneuropathy

Mesh：

Substances：

Year:  2018        PMID： 30452786      PMCID： PMC6309582          DOI： 10.1002/mds.27516

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  5 in total

Review 1.  Retroelements in human disease.

Authors:  Kristel Kaer; Mart Speek
Journal:  Gene       Date:  2013-01-17       Impact factor: 3.688

2.  Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.

Authors:  B Schormair; D Kemlink; B Mollenhauer; O Fiala; G Machetanz; J Roth; R Berutti; T M Strom; B Haslinger; C Trenkwalder; D Zahorakova; P Martasek; E Ruzicka; J Winkelmann
Journal:  Clin Genet       Date:  2018-01-24       Impact factor: 4.438

3.  Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.

Authors:  Elena Sanchez; Hossein Darvish; Roxana Mesias; Shaghyegh Taghavi; Saghar Ghasemi Firouzabadi; Ruth H Walker; Abbas Tafakhori; Coro Paisán-Ruiz
Journal:  Hum Mutat       Date:  2016-08-21       Impact factor: 4.878

Review 4.  Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

Authors:  James R Lupski; Pawel Stankiewicz
Journal:  PLoS Genet       Date:  2005-12       Impact factor: 5.917

5.  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
  5 in total
  11 in total

Review 1.  The contribution of CNVs to the most common aging-related neurodegenerative diseases.

Authors:  Giulia Gentile; Valentina La Cognata; Sebastiano Cavallaro
Journal:  Aging Clin Exp Res       Date:  2020-02-06       Impact factor: 3.636

Review 2.  Role of VPS13, a protein with similarity to ATG2, in physiology and disease.

Authors:  Berrak Ugur; William Hancock-Cerutti; Marianna Leonzino; Pietro De Camilli
Journal:  Curr Opin Genet Dev       Date:  2020-06-18       Impact factor: 5.578

Review 3.  Lysosomal dysfunction in neurodegeneration: emerging concepts and methods.

Authors:  Vinod Udayar; Yu Chen; Ellen Sidransky; Ravi Jagasia
Journal:  Trends Neurosci       Date:  2022-01-13       Impact factor: 13.837

4.  Inter-organellar Communication in Parkinson's and Alzheimer's Disease: Looking Beyond Endoplasmic Reticulum-Mitochondria Contact Sites.

Authors:  Stephanie Vrijsen; Céline Vrancx; Mara Del Vecchio; Johannes V Swinnen; Patrizia Agostinis; Joris Winderickx; Peter Vangheluwe; Wim Annaert
Journal:  Front Neurosci       Date:  2022-06-21       Impact factor: 5.152

5.  Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.

Authors:  Uladzislau Rudakou; Eric Yu; Lynne Krohn; Jennifer A Ruskey; Farnaz Asayesh; Yves Dauvilliers; Dan Spiegelman; Lior Greenbaum; Stanley Fahn; Cheryl H Waters; Nicolas Dupré; Guy A Rouleau; Sharon Hassin-Baer; Edward A Fon; Roy N Alcalay; Ziv Gan-Or
Journal:  Brain       Date:  2021-03-03       Impact factor: 13.501

6.  Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.

Authors:  Stefanie Smolders; Stéphanie Philtjens; David Crosiers; Anne Sieben; Elisabeth Hens; Bavo Heeman; Sara Van Mossevelde; Philippe Pals; Bob Asselbergh; Roberto Dos Santos Dias; Yannick Vermeiren; Rik Vandenberghe; Sebastiaan Engelborghs; Peter Paul De Deyn; Jean-Jacques Martin; Patrick Cras; Wim Annaert; Christine Van Broeckhoven
Journal:  Acta Neuropathol Commun       Date:  2021-02-12       Impact factor: 7.801

7.  Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.

Authors:  Shaun Martin; Stefanie Smolders; Peter Vangheluwe; Christine Van Broeckhoven; Chris Van den Haute; Bavo Heeman; Sarah van Veen; David Crosiers; Igor Beletchi; Aline Verstraeten; Helena Gossye; Géraldine Gelders; Philippe Pals; Norin Nabil Hamouda; Sebastiaan Engelborghs; Jean-Jacques Martin; Jan Eggermont; Peter Paul De Deyn; Patrick Cras; Veerle Baekelandt
Journal:  Acta Neuropathol       Date:  2020-03-14       Impact factor: 17.088

Review 8.  Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis.

Authors:  Stefanie Smolders; Christine Van Broeckhoven
Journal:  Acta Neuropathol Commun       Date:  2020-05-06       Impact factor: 7.801

9.  Analysis of common and rare VPS13C variants in late-onset Parkinson disease.

Authors:  Uladzislau Rudakou; Jennifer A Ruskey; Lynne Krohn; Sandra B Laurent; Dan Spiegelman; Lior Greenbaum; Gilad Yahalom; Alex Desautels; Jacques Y Montplaisir; Stanley Fahn; Cheryl H Waters; Oren Levy; Caitlin M Kehoe; Sushma Narayan; Yves Dauvilliers; Nicolas Dupré; Sharon Hassin-Baer; Roy N Alcalay; Guy A Rouleau; Edward A Fon; Ziv Gan-Or
Journal:  Neurol Genet       Date:  2020-01-09

Review 10.  An Emerging Role for Phosphoinositides in the Pathophysiology of Parkinson's Disease.

Authors:  Meir Schechter; Ronit Sharon
Journal:  J Parkinsons Dis       Date:  2021       Impact factor: 5.568
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