Literature DB >> 25592071

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

Conceição Bettencourt1, 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.   

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Year:  2015        PMID： 25592071     DOI： 10.1007/s12311-014-0643-7

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


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  9 in total

1.  Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

Authors:  C Bettencourt; J L López-Sendón; J García-Caldentey; P Rizzu; I M C Bakker; O Shomroni; B Quintáns; J R Dávila; M R Bevova; M-J Sobrido; P Heutink; J G de Yébenes
Journal:  Clin Genet       Date:  2013-03-25       Impact factor: 4.438

2.  Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.

Authors:  Chang-He Shi; Jonathan C Schisler; Carrie E Rubel; Song Tan; Bo Song; Holly McDonough; Lei Xu; Andrea L Portbury; Cheng-Yuan Mao; Cadence True; Rui-Hao Wang; Qing-Zhi Wang; Shi-Lei Sun; Stephanie B Seminara; Cam Patterson; Yu-Ming Xu
Journal:  Hum Mol Genet       Date:  2013-10-09       Impact factor: 6.150

3.  MutationTaster2: mutation prediction for the deep-sequencing age.

Authors:  Jana Marie Schwarz; David N Cooper; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2014-04       Impact factor: 28.547

4.  Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations.

Authors:  Marta Cordoba; Sergio Rodriguez-Quiroga; Emilia Mabel Gatto; Agustín Alurralde; Marcelo Andrés Kauffman
Journal:  Neurology       Date:  2014-06-13       Impact factor: 9.910

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

Authors:  Chantal Depondt; Simona Donatello; Nicolas Simonis; Myriam Rai; Roxane van Heurck; Marc Abramowicz; Marc D'Hooghe; Massimo Pandolfo
Journal:  Neurology       Date:  2014-04-09       Impact factor: 9.910

Review 6.  The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.

Authors:  Joshua Hersheson; Andrea Haworth; Henry Houlden
Journal:  Hum Mutat       Date:  2012-07-02       Impact factor: 4.878

7.  Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.

Authors:  Yuting Shi; Junling Wang; Jia-Da Li; Haigang Ren; Wenjuan Guan; Miao He; Weiqian Yan; Ying Zhou; Zhengmao Hu; Jianguo Zhang; Jingjing Xiao; Zheng Su; Meizhi Dai; Jun Wang; Hong Jiang; Jifeng Guo; Yafang Zhou; Fufeng Zhang; Nan Li; Juan Du; Qian Xu; Yacen Hu; Qian Pan; Lu Shen; Guanghui Wang; Kun Xia; Zhuohua Zhang; Beisha Tang
Journal:  PLoS One       Date:  2013-12-02       Impact factor: 3.240

8.  Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Authors:  Matthis Synofzik; Rebecca Schüle; Martin Schulze; Janina Gburek-Augustat; Roland Schweizer; Anja Schirmacher; Ingeborg Krägeloh-Mann; Michael Gonzalez; Peter Young; Stephan Züchner; Ludger Schöls; Peter Bauer
Journal:  Orphanet J Rare Dis       Date:  2014-04-17       Impact factor: 4.123

9.  Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.

Authors:  Maria Jose Casarejos; Juan Perucho; Jose Luis López-Sendón; Justo García de Yébenes; Conceição Bettencourt; Ana Gómez; Carolina Ruiz; Peter Heutink; Patrizia Rizzu; Maria Angeles Mena
Journal:  PLoS One       Date:  2014-09-26       Impact factor: 3.240
  9 in total
  18 in total

1.  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 2.  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

3.  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

Review 4.  Alterations in the E3 ligases Parkin and CHIP result in unique metabolic signaling defects and mitochondrial quality control issues.

Authors:  Britney N Lizama; Amy M Palubinsky; BethAnn McLaughlin
Journal:  Neurochem Int       Date:  2017-08-26       Impact factor: 3.921

5.  Neuronal Preconditioning Requires the Mitophagic Activity of C-terminus of HSC70-Interacting Protein.

Authors:  Britney N Lizama; Amy M Palubinsky; Vineeth A Raveendran; Annah M Moore; Joel D Federspiel; Simona G Codreanu; Daniel C Liebler; BethAnn McLaughlin
Journal:  J Neurosci       Date:  2018-06-22       Impact factor: 6.167

6.  Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16.

Authors:  José Gazulla; Silvia Izquierdo-Alvarez; Esther Sierra-Martínez; María Eugenia Marta-Moreno; Sara Alvarez
Journal:  Neurol Sci       Date:  2018-09-11       Impact factor: 3.307

7.  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

Review 8.  Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Authors:  Malco Rossi; Sterre van der Veen; Marcelo Merello; Marina A J Tijssen; Bart van de Warrenburg
Journal:  Mov Disord Clin Pract       Date:  2020-11-03

9.  In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.

Authors:  Yasaman Pakdaman; Monica Sanchez-Guixé; Rune Kleppe; Sigrid Erdal; Helene J Bustad; Lise Bjørkhaug; Kristoffer Haugarvoll; Charalampos Tzoulis; Ketil Heimdal; Per M Knappskog; Stefan Johansson; Ingvild Aukrust
Journal:  Biosci Rep       Date:  2017-04-28       Impact factor: 3.840

10.  STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.

Authors:  Stefanie Nicole Hayer; Tine Deconinck; Benjamin Bender; Katrien Smets; Stephan Züchner; Selina Reich; Ludger Schöls; Rebecca Schüle; Peter De Jonghe; Jonathan Baets; Matthis Synofzik
Journal:  Orphanet J Rare Dis       Date:  2017-02-13       Impact factor: 4.123
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