Literature DB >> 24719489

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

Chantal Depondt1, Simona Donatello, Nicolas Simonis, Myriam Rai, Roxane van Heurck, Marc Abramowicz, Marc D'Hooghe, Massimo Pandolfo.   

Abstract

Autosomal recessive ataxias affect about 1 person in 20,000. Friedreich ataxia accounts for one-third of the cases in Caucasians; the others are due to a growing list of very rare molecular defects, including mild forms of metabolic diseases. In nearly 50%, the genetic cause remains undetermined.

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Year:  2014        PMID： 24719489     DOI： 10.1212/WNL.0000000000000416

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  23 in total

1.  Regulation of autophagic flux by CHIP.

Authors:  Dongkai Guo; Zheng Ying; Hongfeng Wang; Dong Chen; Feng Gao; Haigang Ren; Guanghui Wang
Journal:  Neurosci Bull       Date:  2015-07-28       Impact factor: 5.203

2.  Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.

Authors:  Adam J Kanack; Oliver J Newsom; Kenneth Matthew Scaglione
Journal:  J Biol Chem       Date:  2018-01-09       Impact factor: 5.157

3.  SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE.

Authors:  Jonathan C Schisler; Cam Patterson; Monte S Willis
Journal:  Afr J Cell Pathol       Date:  2016-04

Review 4.  Minireview: hey U(PS): metabolic and proteolytic homeostasis linked via AMPK and the ubiquitin proteasome system.

Authors:  Sarah M Ronnebaum; Cam Patterson; Jonathan C Schisler
Journal:  Mol Endocrinol       Date:  2014-08-06

5.  Amyloid Precursor Protein (APP) May Act as a Substrate and a Recognition Unit for CRL4CRBN and Stub1 E3 Ligases Facilitating Ubiquitination of Proteins Involved in Presynaptic Functions and Neurodegeneration.

Authors:  Dolores Del Prete; Richard C Rice; Anjali M Rajadhyaksha; Luciano D'Adamio
Journal:  J Biol Chem       Date:  2016-06-20       Impact factor: 5.157

Review 6.  Spinocerebellar ataxia type 48: last but not least.

Authors:  Giovanna De Michele; Daniele Galatolo; Melissa Barghigiani; Diletta Dello Iacovo; Rosanna Trovato; Alessandra Tessa; Elena Salvatore; Alessandro Filla; Giuseppe De Michele; Filippo M Santorelli
Journal:  Neurol Sci       Date:  2020-04-27       Impact factor: 3.307

7.  Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.

Authors:  R Palvadeau; Z E Kaya-Güleç; G Şimşir; A Vural; Ö Öztop-Çakmak; G Genç; M S Aygün; O Falay; A Nazlı Başak; S Ertan
Journal:  Neurogenetics       Date:  2019-11-19       Impact factor: 2.660

8.  Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.

Authors:  Conceição Bettencourt; Justo García de Yébenes; José Luis López-Sendón; Orr Shomroni; Xingqian Zhang; Shu-Bing Qian; Ingrid M C Bakker; Sasja Heetveld; Raquel Ros; Beatriz Quintáns; María-Jesús Sobrido; Marianna R Bevova; Shushant Jain; Marianna Bugiani; Peter Heutink; Patrizia Rizzu
Journal:  Cerebellum       Date:  2015-06       Impact factor: 3.847

9.  Autosomal recessive adult onset ataxia.

Authors:  Nataša Dragašević-Mišković; Iva Stanković; Andona Milovanović; Vladimir S Kostić
Journal:  J Neurol       Date:  2021-09-09       Impact factor: 4.849

10.  Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia.

Authors:  Diana A Olszewska; Justin A Kinsella
Journal:  Mov Disord Clin Pract       Date:  2020-03-09
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