Literature DB >> 26657514

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Karine Choquet1, Olga Zurita-Rendón2, Roberta La Piana2, Sharon Yang2, Marie-Josée Dicaire2, Kym M Boycott3, Jacek Majewski4, Eric A Shoubridge1, Bernard Brais1, Martine Tétreault5.   

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Year:  2015        PMID： 26657514     DOI： 10.1093/brain/awv362

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  11 in total

Review 1.  Mitochondrial Proteolysis and Metabolic Control.

Authors:  Sofia Ahola; Thomas Langer; Thomas MacVicar
Journal:  Cold Spring Harb Perspect Biol       Date:  2019-07-01       Impact factor: 10.005

2.  Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

Authors:  F-Nora Vögtle; Björn Brändl; Austin Larson; Manuela Pendziwiat; Marisa W Friederich; Susan M White; Alice Basinger; Cansu Kücükköse; Hiltrud Muhle; Johanna A Jähn; Oliver Keminer; Katherine L Helbig; Carolyn F Delto; Lisa Myketin; Dirk Mossmann; Nils Burger; Noriko Miyake; Audrey Burnett; Andreas van Baalen; Mark A Lovell; Naomichi Matsumoto; Maie Walsh; Hung-Chun Yu; Deepali N Shinde; Ulrich Stephani; Johan L K Van Hove; Franz-Josef Müller; Ingo Helbig
Journal:  Am J Hum Genet       Date:  2018-03-22       Impact factor: 11.025

Review 3.  Disease-Associated Genetic Variation in Human Mitochondrial Protein Import.

Authors:  Emmanuelle Nicolas; Rossella Tricarico; Michelle Savage; Erica A Golemis; Michael J Hall
Journal:  Am J Hum Genet       Date:  2019-05-02       Impact factor: 11.025

Review 4.  Systematic review of autosomal recessive ataxias and proposal for a classification.

Authors:  Marie Beaudin; Christopher J Klein; Guy A Rouleau; Nicolas Dupré
Journal:  Cerebellum Ataxias       Date:  2017-02-23

Review 5.  The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.

Authors:  Marie Beaudin; Antoni Matilla-Dueñas; Bing-Weng Soong; Jose Luiz Pedroso; Orlando G Barsottini; Hiroshi Mitoma; Shoji Tsuji; Jeremy D Schmahmann; Mario Manto; Guy A Rouleau; Christopher Klein; Nicolas Dupre
Journal:  Cerebellum       Date:  2019-12       Impact factor: 3.847

Review 6.  Mitochondrial Processing Peptidases-Structure, Function and the Role in Human Diseases.

Authors:  Nina Kunová; Henrieta Havalová; Gabriela Ondrovičová; Barbora Stojkovičová; Jacob A Bauer; Vladena Bauerová-Hlinková; Vladimir Pevala; Eva Kutejová
Journal:  Int J Mol Sci       Date:  2022-01-24       Impact factor: 5.923

7.  Integrative Identification of Genetic Loci Jointly Influencing Diabetes-Related Traits and Sleep Traits of Insomnia, Sleep Duration, and Chronotypes.

Authors:  Yujia Ma; Zechen Zhou; Xiaoyi Li; Zeyu Yan; Kexin Ding; Han Xiao; Yiqun Wu; Tao Wu; Dafang Chen
Journal:  Biomedicines       Date:  2022-02-02

8.  Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.

Authors:  Majida Charif; Arnaud Chevrollier; Naïg Gueguen; Selma Kane; Céline Bris; David Goudenège; Valerie Desquiret-Dumas; Isabelle Meunier; Fanny Mochel; Luc Jeanjean; Fanny Varenne; Vincent Procaccio; Pascal Reynier; Dominique Bonneau; Patrizia Amati-Bonneau; Guy Lenaers
Journal:  Genes (Basel)       Date:  2022-07-05       Impact factor: 4.141

9.  From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.

Authors:  Marni J Falk; Lishuang Shen; Xiaowu Gai
Journal:  Cold Spring Harb Mol Case Stud       Date:  2016-05

Review 10.  Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Authors:  Eduardo Ruiz-Pesini; Julio Montoya; David Pacheu-Grau
Journal:  Genes (Basel)       Date:  2021-07-01       Impact factor: 4.096
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