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The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian Syndromes.
MedLine Citation:
PMID:  23143281     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
The dynactin p150glued subunit, encoded by the gene DCTN1 is part of the dynein-dynactin motor protein complex responsible for retrograde axonal transport. This subunit is a candidate modifier for neurodegenerative diseases, in particular motoneuron and extrapyramidal diseases. Based on an extensive screening effort of all 32 exons in more than 2,500 ALS/MND patients, patients suffering from Parkinsonian Syndromes and controls, we investigated 24 sequence variants of p150 in cell-based studies. We used both non-neuronal cell lines and primary rodent spinal motoneurons and report on cell biological abnormalities in five of these sequence alterations and also briefly report on the clinical features. Our results suggest the presence of biological changes caused by some p150 mutants pointing to a potential pathogenetic significance as modifier of the phenotype of the human disease.
Authors:
Marianne Stockmann; Marie Meyer-Ohlendorf; Kevin Achberger; Stefan Putz; Maria Demestre; Haishan Yin; Corinna Hendrich; Leonhard Linta; Jutta Heinrich; Cornelia Brunner; Christian Proepper; Georges F Kuh; Bernd Baumann; Torben Langer; Birgit Schwalenstöcker; Kerstin E Braunstein; Christine von Arnim; Stephan Schneuwly; Thomas Meyer; Philip C Wong; Tobias M Boeckers; Albert C Ludolph; Stefan Liebau
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-11
Journal Detail:
Title:  Journal of neural transmission (Vienna, Austria : 1996)     Volume:  -     ISSN:  1435-1463     ISO Abbreviation:  J Neural Transm     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9702341     Medline TA:  J Neural Transm     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Institute for Anatomy and Cell Biology, Ulm University, Albert-Einstein Allee 11, 89081, Ulm, Germany.
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