(Q44296110)

1 December 2017

Consequences of a novel caveolin-3 mutation in a large German family (English)

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1 December 2017

Dirk Fischer

1

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1 December 2017

Anja Schroers

2

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1 December 2017

Ingmar Blümcke

3

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1 December 2017

Horst Urbach

4

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1 December 2017

Klaus Zerres

5

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1 December 2017

Wilhelm Mortier

6

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1 December 2017

Matthias Vorgerd

7

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1 December 2017

Rolf Schröder

8

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1 December 2017

1 February 2003

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1 December 2017

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1 December 2017

53

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1 December 2017

2

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1 December 2017

233-241

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The caveolae membrane system

1 December 2017

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Caveolae and caveolin-3 in muscular dystrophy

21 January 2018

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Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy

21 January 2018

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Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle

21 January 2018

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Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins

21 January 2018

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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

21 January 2018

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Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene

21 January 2018

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Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

21 January 2018

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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

21 January 2018

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A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen

21 January 2018

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Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy

21 January 2018

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Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity

21 January 2018

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The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

21 January 2018

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Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex

21 January 2018

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Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutanta and rescues wild-type caveolin-3.

21 January 2018

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Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

21 January 2018

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Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.10442

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1 December 2017

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