Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.

We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease. MTMR2 dephosphorylates both PtdIns3P and PtdIns(3,5...

Full description

Bibliographic Details
Main Authors:	Ilaria Vaccari, Giorgia Dina, Hélène Tronchère, Emily Kaufman, Gaëtan Chicanne, Federica Cerri, Lawrence Wrabetz, Bernard Payrastre, Angelo Quattrini, Lois S Weisman, Miriam H Meisler, Alessandra Bolino
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2011-10-01
Series:	PLoS Genetics
Online Access:	http://europepmc.org/articles/PMC3197679?pdf=render

Similar Items

DHPLC analysis of unrelated CMT patients in the Myotubularin related 2 gene, MTMR2, responsible for Charcot-Marie-Tooth disease type 4B.
by: Bolino, A, et al.
Published: (2000)

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
by: Guy M Lenk, et al.
Published: (2011-06-01)

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking
by: Haicui Wang, et al.
Published: (2019-10-01)

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
by: Bolino, A, et al.
Published: (2002)

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
by: Bolino, A, et al.
Published: (2001)

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS
by: Chow, Clement Y., et al.
Published: (2015)

Clinical characteristics and MTMR13/SBF2 gene mutation analysis of a Charcot - Marie-Tooth disease type 4B2 Chinese family
by: Yu-ling ZHU, et al.
Published: (2018-08-01)

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
by: Leonela Amoasii, et al.
Published: (2012-01-01)

A conserved MTMR lipid phosphatase increasingly suppresses autophagy in brain neurons during aging
by: Tibor Kovács, et al.
Published: (2022-12-01)

Charcot–Marie–Tooth Disease
by: Hafiz Muhammad Noman, Haleema Akbar et al
Published: (2018-06-01)

CHARCOT-MARIE-TOOTH DISEASE
by: Lea Leonardis, et al.
Published: (2003-09-01)

Charcot-Marie-Tooth disease
by: Alulin Tácio Quadros Santos Monteiro Fonseca, MD, et al.
Published: (2018-09-01)

Physiotherapy of Charcot–Marie–Tooth disease
by: N. A. Shnayder, et al.
Published: (2015-02-01)

Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model
by: Nicolas Granger, et al.
Published: (2019-11-01)

Alterações audiológicas na doença de Charcot-Marie-Tooth Audiological findings in the Charcot-Marie-Tooth disease
by: Erika Fukushima, et al.
Published: (2011-02-01)

Enfermedad de Charcot Marie Tooth en un niño Charcot-Marie-Tooth disease in a child
by: Teresa Vidal Pérez, et al.
Published: (2012-11-01)

Neurofilaments in health and Charcot-Marie-Tooth disease
by: Farah Kotaich, et al.
Published: (2023-12-01)

Progress in treatment of Charcot-Marie-Tooth disease
by: Ru-xu ZHANG, et al.
Published: (2017-08-01)

Expression analysis in the peripheral nerve of the myotubularin-related 2 protein phosphatase, mutated in CMT4B1
by: Previtali, S, et al.
Published: (2003)

Pé cavo adquirido na doença de Charcot-Marie-Tooth Acquired pes cavus in Charcot-Marie-Tooth disease
by: Daniel Augusto Carvalho Maranho, et al.
Published: (2009-01-01)

MTMR4 is required for the stability of the Salmonella-containing vacuole
by: Wei Xuan Teo, et al.
Published: (2016-08-01)

Targeting muscle to treat Charcot-Marie-Tooth disease
by: David Villarroel-Campos, et al.
Published: (2024-01-01)

The Current State of Charcot–Marie–Tooth Disease Treatment
by: Yuji Okamoto, et al.
Published: (2023-07-01)

Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies
by: Marina Stavrou, et al.
Published: (2021-06-01)

Rehabilitation in Charcot-Marie-Tooth disease type 1
by: Manoj Mannil, et al.
Published: (2014-09-01)

Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease
by: Cara R. Schiavon, et al.
Published: (2021-02-01)

Anaesthetic implications in patient with Charcot-Marie-Tooth disease
by: Hemlata Kapoor, et al.
Published: (2021-01-01)

Doença de Charcot-Marie-Tooth: estudos eletromiográficos em 45 pacientes Charcot-Marie-Tooth disease: electromyographic studies in 45 cases
by: Marcos R.G. Freitas, et al.
Published: (1995-09-01)

Doença de Charcot-Marie-Tooth: estudo clínico em 45 pacientes Charcot-Marie-Tooth disease: clinical features in 45 cases
by: Marcos R. G. de freitas, et al.
Published: (1995-09-01)

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
by: Previtali, S, et al.
Published: (2003)

Deficiency of MTMR14 impairs male fertility in Mus musculus.
by: Nana Wen, et al.
Published: (2018-01-01)

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
by: Bolino, A, et al.
Published: (2000)

Charcot-Marie-Tooth disease associated with recurrent optic neuritis.
by: Wakerley, B, et al.
Published: (2011)

Correlates of calf cramp in children with Charcot-Marie-Tooth disease
by: Blyton Fiona E, et al.
Published: (2012-04-01)

Evolution of foot manifestations in children with Charcot-Marie-Tooth disease
by: Burns Joshua, et al.
Published: (2008-09-01)

Therapeutic Development in Charcot Marie Tooth Type 1 Disease
by: Pierre Miniou, et al.
Published: (2021-06-01)

Exercise and physical activity for persons with Charcot-Marie-Tooth Disease
by: Andreas Lahelle, et al.
Published: (2022-05-01)

Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes
by: Soo Hyun Nam, et al.
Published: (2019-06-01)

Connexin32 and X-linked Charcot–Marie–Tooth Disease
by: Linda Jo Bone, et al.
Published: (1997-01-01)

Genetic profile of Chinese patients with Charcot-Marie-Tooth disease
by: Zhi-Yuan Ouyang, et al.
Published: (2020-11-01)