Title |
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy
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Published in |
BMC Neurology, July 2013
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DOI | 10.1186/1471-2377-13-70 |
Pubmed ID | |
Authors |
Vered Raz, Ellen Sterrenburg, Samantha Routledge, Andrea Venema, Barbara M van der Sluijs, Capucine Trollet, George Dickson, Baziel GM van Engelen, Silvère M van der Maarel, Michael N Antoniou |
Abstract |
Muscle fibrosis characterizes degenerated muscles in muscular dystrophies and in late onset myopathies. Fibrotic muscles often exhibit thickening of the extracellular matrix (ECM). The molecular regulation of this process is not fully understood. In oculopharyngeal muscular dystrophy (OPMD), an expansion of an alanine tract at the N-terminus of poly(A)-binding protein nuclear 1 (PABPN1) causes muscle symptoms. OPMD patient muscle degeneration initiates after midlife, while at an earlier age carriers of alanine expansion mutant PABPN1 (expPABPN1) are clinically pre-symptomatic. OPMD is characterized by fibrosis in skeletal muscles but the causative molecular mechanisms are not fully understood. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Egypt | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Korea, Republic of | 1 | 3% |
Unknown | 35 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 8 | 22% |
Researcher | 5 | 14% |
Student > Bachelor | 5 | 14% |
Student > Master | 4 | 11% |
Librarian | 2 | 6% |
Other | 5 | 14% |
Unknown | 7 | 19% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 9 | 25% |
Medicine and Dentistry | 6 | 17% |
Agricultural and Biological Sciences | 5 | 14% |
Business, Management and Accounting | 2 | 6% |
Neuroscience | 2 | 6% |
Other | 3 | 8% |
Unknown | 9 | 25% |