MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers (Q34093219)

31 July 2017

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers (English)

1 reference

X-linked myotubular myopathy

31 July 2017

1 reference

Alan H Beggs

1

1 reference

31 July 2017

Johann Böhm

2

1 reference

31 July 2017

Elizabeth Snead

3

1 reference

31 July 2017

Marek Kozlowski

4

1 reference

31 July 2017

Marie Maurer

5

1 reference

31 July 2017

Katie Minor

6

1 reference

31 July 2017

Martin K Childers

7

1 reference

31 July 2017

Susan M Taylor

8

1 reference

31 July 2017

Christophe Hitte

9

1 reference

31 July 2017

James R Mickelson

10

1 reference

31 July 2017

Ling T Guo

11

1 reference

31 July 2017

Andrew P Mizisin

12

1 reference

31 July 2017

Anna Buj-Bello

13

1 reference

31 July 2017

Laurent Tiret

14

1 reference

31 July 2017

Jocelyn Laporte

15

1 reference

31 July 2017

G Diane Shelton

16

1 reference

31 July 2017

language of work or name

English

0 references

publication date

3 August 2010

1 reference

Proceedings of the National Academy of Sciences of the United States of America

31 July 2017

1 reference

31 July 2017

107

1 reference

31 July 2017

14697-14702

1 reference

31 July 2017

33

1 reference

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

A possible new inherited myopathy in a young Labrador retriever

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

Endosomal phosphoinositides and human diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

Translation of new cancer treatments from pet dogs to humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

Myotubularin phosphatases: policing 3-phosphoinositides

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

X-linked myotubular and centronuclear myopathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

Expression of fiber type specific proteins during ontogeny of canine temporalis muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

A muscle disorder of Labrador retrievers characterized by deficiency of type II muscle fibers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs

5 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003677107

SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003677107

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003677107

Medical complications in long-term survivors with X-linked myotubular myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003677107

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930454

28 October 2018

Congenital myopathies

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003677107

The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003677107

Canine X-linked muscular dystrophy in Japan (CXMDJ)

21 January 2018

1 reference

12 December 2020

X-linked myotubular myopathy in a family with three adult survivors

1 reference

12 December 2020

Hereditary myopathy in Labrador retrievers: a morphologic study

1 reference

12 December 2020

An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1003677107

1 reference

31 July 2017

0 references

1 reference

31 July 2017

1 reference