Literature DB >> 27810918

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.

Sini Penttilä1, Manu Jokela2, Anna Maija Saukkonen3, Jari Toivanen3, Johanna Palmio1, Janne Lähdesmäki2, Satu Sandell4, Mariia Shcherbii5, Mari Auranen6, Emil Ylikallio5, Henna Tyynismaa5, Bjarne Udd1,7,8.   

Abstract

Entities:  

Keywords:  GENETICS; MOTOR NEURON DISEASE; SPINAL MUSCULAR ATRO

Mesh:

Substances:

Year:  2016        PMID: 27810918     DOI: 10.1136/jnnp-2016-314154

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


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  5 in total

1.  Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.

Authors:  Emmanuelle C Genin; Sylvie Bannwarth; Françoise Lespinasse; Bernardo Ortega-Vila; Konstantina Fragaki; Kie Itoh; Elodie Villa; Sandra Lacas-Gervais; Manu Jokela; Mari Auranen; Emil Ylikallio; Alessandra Mauri-Crouzet; Henna Tyynismaa; Anna Vihola; Gaelle Augé; Charlotte Cochaud; Hiromi Sesaki; Jean-Ehrland Ricci; Bjarne Udd; Cristofol Vives-Bauza; Véronique Paquis-Flucklinger
Journal:  Neurobiol Dis       Date:  2018-08-06       Impact factor: 5.996

2.  The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction.

Authors:  Neeraja Purandare; Mallika Somayajulu; Maik Hüttemann; Lawrence I Grossman; Siddhesh Aras
Journal:  J Biol Chem       Date:  2018-03-14       Impact factor: 5.157

Review 3.  MNRR1, a Biorganellar Regulator of Mitochondria.

Authors:  Lawrence I Grossman; Neeraja Purandare; Rooshan Arshad; Stephanie Gladyck; Mallika Somayajulu; Maik Hüttemann; Siddhesh Aras
Journal:  Oxid Med Cell Longev       Date:  2017-06-08       Impact factor: 6.543

4.  CHCHD2 and CHCHD10 regulate mitochondrial dynamics and integrated stress response.

Authors:  Yu Ruan; Jiaqiao Hu; Yaping Che; Yanyan Liu; Zhenhuan Luo; Jin Cheng; Qi Han; He He; Qinghua Zhou
Journal:  Cell Death Dis       Date:  2022-02-16       Impact factor: 8.469

Review 5.  CHCHD2 and CHCHD10: Future therapeutic targets in cognitive disorder and motor neuron disorder.

Authors:  Tianlin Jiang; Yanli Wang; Xiaohong Wang; Jun Xu
Journal:  Front Neurosci       Date:  2022-08-18       Impact factor: 5.152

  5 in total

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