Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy-Reference-Cited by-同舟云学术

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

Published:2017-07-06 Issue:19 Volume:26 Page:3736-3748
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Raess Matthieu A.¹²³⁴⁵,Cowling Belinda S.¹²³⁴,Bertazzi Dimitri L.⁵,Kretz Christine¹²³⁴,Rinaldi Bruno⁵,Xuereb Jean-Marie⁶,Kessler Pascal¹²³⁴,Romero Norma B.⁷⁸⁹,Payrastre Bernard⁶¹⁰,Friant Sylvie⁵,Laporte Jocelyn¹²³⁴

Affiliation:

1. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67404 Illkirch, France

2. INSERM U964, 67404 Illkirch, France

3. CNRS, UMR7104, 67404 Illkirch, France

4. Université de Strasbourg, 67404 Illkirch, France

5. Department of Molecular and Cellular Genetics, Université de Strasbourg, CNRS, GMGM UMR7156, 67000 Strasbourg, France

6. INSERM U1048 and Université Toulouse 3, Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), 31432 Toulouse, France

7. INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Pitié-Salpêtrière Hospital, Sorbonne Universities, Pierre and Marie Curie University, 75013 Paris, France

8. Unit of Neuromuscular Morphology, Institute of Myology

9. Reference Center for Neuromuscular Pathology Paris-East, Institute of Myology, Public Hospital Network of Paris, Pitié-Salpêtrière Hospital, 75013 Paris, France

10. CHU de Toulouse, Laboratoire d'Hématologie, 31059 Toulouse, France

Funder

Agence Nationale de la Recherche

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/19/3736/19947604/ddx258.pdf

Reference49 articles.

1. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway;Blondeau;Hum. Mol. Genet,2000

2. Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate;Taylor;Proc. Natl. Acad. Sci. U. S. A,2000