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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Tokarz, Debra Rainier, Shirley Chai, Jing-Hua Nicholls, Robert D. Fink, John K. |
| Description | Country affiliation: United States Author Affiliation: Rainier S ( Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.) |
| Abstract | The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity weakness and spasticity. The molecular pathogenesis is poorly understood. We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP), linked to chromosome 15q11-q13 (SPG6 locus); and precisely the same mutation in an unrelated kindred with ADHSP that was too small for meaningful linkage analysis. NIPA1 is highly expressed in neuronal tissues and encodes a putative membrane transporter or receptor. Identification of the NIPA1 function and ligand will aid an understanding of axonal neurodegeneration in HSP and may have important therapeutic implications. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 4 |
| Volume Number | 73 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2003-10-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Membrane Proteins Genetics Mutation Spastic Paraplegia, Hereditary Genes, Dominant Models, Molecular Pedigree Protein Structure, Secondary Reference Values Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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