Nuclear envelope proteins and neuromuscular diseases
Several neuromuscular diseases are caused by mutations in emerin and A‐type lamins, proteins of the nuclear envelope. Emery–Dreifuss muscular dystrophy is caused by mutations in emerin (X‐linked) or A‐type lamins (autosomal dominant). Mutations in A‐type lamins also cause limb‐girdle muscular dystro...
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| Published in | Muscle & nerve Vol. 27; no. 4; pp. 393 - 406 |
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| Main Authors | , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Wiley Subscription Services, Inc., A Wiley Company
01.04.2003
Wiley |
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| Abstract | Several neuromuscular diseases are caused by mutations in emerin and A‐type lamins, proteins of the nuclear envelope. Emery–Dreifuss muscular dystrophy is caused by mutations in emerin (X‐linked) or A‐type lamins (autosomal dominant). Mutations in A‐type lamins also cause limb‐girdle muscular dystrophy type 1B, dilated cardiomyopathy with conduction defect, and Charcot–Marie–Tooth disorder type 2B1. They also cause partial lipodystrophy syndromes. The functions of emerin and A‐type lamins and the mechanisms of how mutations in these proteins cause tissue‐specific diseases are not well understood. The mutated proteins may cause structural damage to cells but may also affect processes such as gene regulation. This review gives an overview of this topic and describes recent advances in identification of disease‐causing mutations, studies of cells and tissues from subjects with these diseases, and animal and cell culture models. Muscle Nerve 27: 393–406, 2003 |
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| AbstractList | Several neuromuscular diseases are caused by mutations in emerin and A-type lamins, proteins of the nuclear envelope. Emery-Dreifuss muscular dystrophy is caused by mutations in emerin (X-linked) or A-type lamins (autosomal dominant). Mutations in A-type lamins also cause limb-girdle muscular dystrophy type 1B, dilated cardiomyopathy with conduction defect, and Charcot-Marie-Tooth disorder type 2B1. They also cause partial lipodystrophy syndromes. The functions of emerin and A-type lamins and the mechanisms of how mutations in these proteins cause tissue-specific diseases are not well understood. The mutated proteins may cause structural damage to cells but may also affect processes such as gene regulation. This review gives an overview of this topic and describes recent advances in identification of disease-causing mutations, studies of cells and tissues from subjects with these diseases, and animal and cell culture models. Muscle Nerve 27: 393-406, 2003Accepted: 8 October 2002 Several neuromuscular diseases are caused by mutations in emerin and A-type lamins, proteins of the nuclear envelope. Emery-Dreifuss muscular dystrophy is caused by mutations in emerin (X-linked) or A-type lamins (autosomal dominant). Mutations in A-type lamins also cause limb-girdle muscular dystrophy type 1B, dilated cardiomyopathy with conduction defect, and Charcot-Marie-Tooth disorder type 2B1. They also cause partial lipodystrophy syndromes. The functions of emerin and A-type lamins and the mechanisms of how mutations in these proteins cause tissue-specific diseases are not well understood. The mutated proteins may cause structural damage to cells but may also affect processes such as gene regulation. This review gives an overview of this topic and describes recent advances in identification of disease-causing mutations, studies of cells and tissues from subjects with these diseases, and animal and cell culture models.Several neuromuscular diseases are caused by mutations in emerin and A-type lamins, proteins of the nuclear envelope. Emery-Dreifuss muscular dystrophy is caused by mutations in emerin (X-linked) or A-type lamins (autosomal dominant). Mutations in A-type lamins also cause limb-girdle muscular dystrophy type 1B, dilated cardiomyopathy with conduction defect, and Charcot-Marie-Tooth disorder type 2B1. They also cause partial lipodystrophy syndromes. The functions of emerin and A-type lamins and the mechanisms of how mutations in these proteins cause tissue-specific diseases are not well understood. The mutated proteins may cause structural damage to cells but may also affect processes such as gene regulation. This review gives an overview of this topic and describes recent advances in identification of disease-causing mutations, studies of cells and tissues from subjects with these diseases, and animal and cell culture models. Several neuromuscular diseases are caused by mutations in emerin and A‐type lamins, proteins of the nuclear envelope. Emery–Dreifuss muscular dystrophy is caused by mutations in emerin (X‐linked) or A‐type lamins (autosomal dominant). Mutations in A‐type lamins also cause limb‐girdle muscular dystrophy type 1B, dilated cardiomyopathy with conduction defect, and Charcot–Marie–Tooth disorder type 2B1. They also cause partial lipodystrophy syndromes. The functions of emerin and A‐type lamins and the mechanisms of how mutations in these proteins cause tissue‐specific diseases are not well understood. The mutated proteins may cause structural damage to cells but may also affect processes such as gene regulation. This review gives an overview of this topic and describes recent advances in identification of disease‐causing mutations, studies of cells and tissues from subjects with these diseases, and animal and cell culture models. Muscle Nerve 27: 393–406, 2003 Several neuromuscular diseases are caused by mutations in emerin and A-type lamins, proteins of the nuclear envelope. Emery-Dreifuss muscular dystrophy is caused by mutations in emerin (X-linked) or A-type lamins (autosomal dominant). Mutations in A-type lamins also cause limb-girdle muscular dystrophy type 1B, dilated cardiomyopathy with conduction defect, and Charcot-Marie-Tooth disorder type 2B1. They also cause partial lipodystrophy syndromes. The functions of emerin and A-type lamins and the mechanisms of how mutations in these proteins cause tissue-specific diseases are not well understood. The mutated proteins may cause structural damage to cells but may also affect processes such as gene regulation. This review gives an overview of this topic and describes recent advances in identification of disease-causing mutations, studies of cells and tissues from subjects with these diseases, and animal and cell culture models. |
| Author | Östlund, Cecilia Worman, Howard J. |
| Author_xml | – sequence: 1 givenname: Cecilia surname: Östlund fullname: Östlund, Cecilia organization: Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, Tenth Floor, New York, New York 10032, USA – sequence: 2 givenname: Howard J. surname: Worman fullname: Worman, Howard J. email: hjw14@columbia.edu organization: Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, Tenth Floor, New York, New York 10032, USA |
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| Keywords | Cell culture Animal model Emery-Dreifuss muscular dystrophy Cardiovascular disease Review Myocardial disease Nuclear envelope limb-girdle muscular dystrophy muscular dystrophy Emery Dreifuss muscular dystrophy Gene Heart disease Charcot-Marie-Tooth disease Degenerative disease Coat protein cardiomyopathy Nervous system diseases Neuromuscular diseases lamin Genetic disease emerin Congestive hypertrophic cardiomyopathy Charcot Marie Tooth disease Central nervous system disease Limb girdle muscular dystrophy Lipodystrophy Adipose tissue disorders Mutation Spinal cord disease |
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| Snippet | Several neuromuscular diseases are caused by mutations in emerin and A‐type lamins, proteins of the nuclear envelope. Emery–Dreifuss muscular dystrophy is... Several neuromuscular diseases are caused by mutations in emerin and A-type lamins, proteins of the nuclear envelope. Emery-Dreifuss muscular dystrophy is... |
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| SubjectTerms | Animals Biological and medical sciences cardiomyopathy Charcot-Marie-Tooth disease Cytoskeleton - genetics Cytoskeleton - metabolism Cytoskeleton - pathology Diseases of striated muscles. Neuromuscular diseases emerin Emery-Dreifuss muscular dystrophy Humans lamin Lamin Type A - genetics Lamin Type A - metabolism limb-girdle muscular dystrophy lipodystrophy Medical sciences Membrane Proteins - genetics Membrane Proteins - metabolism Muscle, Skeletal - metabolism Muscle, Skeletal - pathology muscular dystrophy Mutation - genetics Neurology Neuromuscular Diseases - genetics Neuromuscular Diseases - metabolism Neuromuscular Diseases - pathology Nuclear Envelope - genetics Nuclear Envelope - metabolism Nuclear Proteins Thymopoietins - genetics Thymopoietins - metabolism |
| Title | Nuclear envelope proteins and neuromuscular diseases |
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