Literature DB >> 15064763

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Stephan Züchner1, Irina V Mersiyanova, Maria Muglia, Nisrine Bissar-Tadmouri, Julie Rochelle, Elena L Dadali, Mario Zappia, Eva Nelis, Alessandra Patitucci, Jan Senderek, Yesim Parman, Oleg Evgrafov, Peter De Jonghe, Yuji Takahashi, Shoij Tsuji, Margaret A Pericak-Vance, Aldo Quattrone, Esra Battaloglu, Alexander V Polyakov, Vincent Timmerman, J Michael Schröder, Jeffery M Vance, Esra Battologlu.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15064763     DOI： 10.1038/ng1341

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  592 in total

Review 1.  The interplay of neuronal mitochondrial dynamics and bioenergetics: implications for Parkinson's disease.

Authors:  Victor S Van Laar; Sarah B Berman
Journal:  Neurobiol Dis       Date:  2012-06-02       Impact factor: 5.996

2.  Down-regulation of OPA1 alters mouse mitochondrial morphology, PTP function, and cardiac adaptation to pressure overload.

Authors:  Jerome Piquereau; Fanny Caffin; Marta Novotova; Alexandre Prola; Anne Garnier; Philippe Mateo; Dominique Fortin; Le Ha Huynh; Valérie Nicolas; Marcel V Alavi; Catherine Brenner; Renée Ventura-Clapier; Vladimir Veksler; Frédéric Joubert
Journal:  Cardiovasc Res       Date:  2012-03-08       Impact factor: 10.787

3.  Mitochondrial hyperfusion causes neuropathy in a fly model of CMT2A.

Authors:  Eri Ueda; Naotada Ishihara
Journal:  EMBO Rep       Date:  2018-07-20       Impact factor: 8.807

4.  Down-regulation of mortalin exacerbates Aβ-mediated mitochondrial fragmentation and dysfunction.

Authors:  So Jung Park; Ji Hyun Shin; Jae In Jeong; Ji Hoon Song; Yoon Kyung Jo; Eun Sung Kim; Eunjoo H Lee; Jung Jin Hwang; Eun Kyung Lee; Sun Ju Chung; Jae-Young Koh; Dong-Gyu Jo; Dong-Hyung Cho
Journal:  J Biol Chem       Date:  2013-12-09       Impact factor: 5.157

5.  MGARP regulates mouse neocortical development via mitochondrial positioning.

Authors:  Liyun Jia; Tong Liang; Xiaoyan Yu; Chao Ma; Shuping Zhang
Journal:  Mol Neurobiol       Date:  2013-12-10       Impact factor: 5.590

Review 6.  Mitochondrial morphology-emerging role in bioenergetics.

Authors:  Chad A Galloway; Hakjoo Lee; Yisang Yoon
Journal:  Free Radic Biol Med       Date:  2012-09-29       Impact factor: 7.376

7.  A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Authors:  Lois Dankwa; Jessica Richardson; William W Motley; Mena Scavina; Steve Courel; Tanya Bardakjian; Stephan Züchner; Steven S Scherer
Journal:  Neuromuscul Disord       Date:  2018-12-21       Impact factor: 4.296

Review 8.  [Genetics of neuropathies].

Authors:  B Gess; A Schirmacher; P Young
Journal:  Nervenarzt       Date:  2013-02       Impact factor: 1.214

Review 9.  Impairing the mitochondrial fission and fusion balance: a new mechanism of neurodegeneration.

Authors:  Andrew B Knott; Ella Bossy-Wetzel
Journal:  Ann N Y Acad Sci       Date:  2008-12       Impact factor: 5.691

10.  Bax interacting factor-1 promotes survival and mitochondrial elongation in neurons.

Authors:  David B Wang; Takuma Uo; Chizuru Kinoshita; Bryce L Sopher; Rona J Lee; Sean P Murphy; Yoshito Kinoshita; Gwenn A Garden; Hong-Gang Wang; Richard S Morrison
Journal:  J Neurosci       Date:  2014-02-12       Impact factor: 6.167
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.