Literature DB >> 10805342

X-linked vacuolar myopathies: two separate loci and refined genetic mapping.

M Auranen1, M Villanova, F Muntoni, M Fardeau, S W Scherer, H Kalino, B A Minassian.   

Abstract

X-linked vacuolar myopathies can be divided into two forms: one that is associated with cardiomyopathy and mental retardation (XVCM-MR) and a second form, termed X-linked myopathy with excessive autophagy (XMEA), that spares cardiac muscle and has no central nervous system involvement. In this article, we demonstrate linkage between XMEA and markers on chromosome Xq28 and assign the XMEA gene locus to the most telomeric 10.5 cM of chromosome X. We also show that XVCM-MR is not allelic to XMEA.

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Year:  2000        PMID: 10805342

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  5 in total

1.  Class III phosphoinositide 3-kinase--Beclin1 complex mediates the amino acid-dependent regulation of autophagy in C2C12 myotubes.

Authors:  Amina Tassa; Marie Paule Roux; Didier Attaix; Daniel M Bechet
Journal:  Biochem J       Date:  2003-12-15       Impact factor: 3.857

Review 2.  Chaperones in autophagy.

Authors:  Susmita Kaushik; Ana Maria Cuervo
Journal:  Pharmacol Res       Date:  2012-10-08       Impact factor: 7.658

3.  Late adult-onset of X-linked myopathy with excessive autophagy.

Authors:  Cameron D Crockett; Alessandra Ruggieri; Meena Gujrati; Christopher M Zallek; Nivetha Ramachandran; Berge A Minassian; Steven A Moore
Journal:  Muscle Nerve       Date:  2014-05-17       Impact factor: 3.217

Review 4.  Mapping autophagy on to your metabolic radar.

Authors:  Eijiro Yamada; Rajat Singh
Journal:  Diabetes       Date:  2012-02       Impact factor: 9.461

5.  Fyn phosphorylates AMPK to inhibit AMPK activity and AMP-dependent activation of autophagy.

Authors:  Eijiro Yamada; Shuichi Okada; Claire C Bastie; Manu Vatish; Yasuyo Nakajima; Ryo Shibusawa; Atsushi Ozawa; Jeffrey E Pessin; Masanobu Yamada
Journal:  Oncotarget       Date:  2016-11-15
  5 in total

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