Literature DB >> 34277935

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1.

Changrui Xiao1, Thomas Markello1, Wadih M Zein1, Rachel Bishop1, Catherine Groden1, William Gahl1, Camilo Toro1.   

Abstract

Entities:  

Year:  2021        PMID： 34277935      PMCID： PMC8284080          DOI： 10.1212/NXG.0000000000000606

Source DB:  PubMed          Journal:  Neurol Genet        ISSN： 2376-7839


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  6 in total

1.  The Parkinson disease-related protein DJ-1 counteracts mitochondrial impairment induced by the tumour suppressor protein p53 by enhancing endoplasmic reticulum-mitochondria tethering.

Authors:  Denis Ottolini; Tito Calì; Alessandro Negro; Marisa Brini
Journal:  Hum Mol Genet       Date:  2013-02-14       Impact factor: 6.150

Review 2.  Mechanisms leading to uniparental disomy and their clinical consequences.

Authors:  W P Robinson
Journal:  Bioessays       Date:  2000-05       Impact factor: 4.345

3.  Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

Authors:  C E Briggs; D Rucinski; P J Rosenfeld; T Hirose; E L Berson; T P Dryja
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-09       Impact factor: 4.799

4.  Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

Authors:  Vincenzo Bonifati; Patrizia Rizzu; Marijke J van Baren; Onno Schaap; Guido J Breedveld; Elmar Krieger; Marieke C J Dekker; Ferdinando Squitieri; Pablo Ibanez; Marijke Joosse; Jeroen W van Dongen; Nicola Vanacore; John C van Swieten; Alexis Brice; Giuseppe Meco; Cornelia M van Duijn; Ben A Oostra; Peter Heutink
Journal:  Science       Date:  2002-11-21       Impact factor: 47.728

5.  Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Authors:  Meike Kasten; Corinna Hartmann; Jennie Hampf; Susen Schaake; Ana Westenberger; Eva-Juliane Vollstedt; Alexander Balck; Aloysius Domingo; Franca Vulinovic; Marija Dulovic; Ingo Zorn; Harutyun Madoev; Hanna Zehnle; Christina M Lembeck; Leopold Schawe; Jennifer Reginold; Jana Huang; Inke R König; Lars Bertram; Connie Marras; Katja Lohmann; Christina M Lill; Christine Klein
Journal:  Mov Disord       Date:  2018-04-11       Impact factor: 10.338

6.  Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population.

Authors:  Priyanka Nakka; Samuel Pattillo Smith; Anne H O'Donnell-Luria; Kimberly F McManus; Joanna L Mountain; Sohini Ramachandran; J Fah Sathirapongsasuti
Journal:  Am J Hum Genet       Date:  2019-10-10       Impact factor: 11.025
  6 in total

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