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ALSoD is a joint project of World Federation of Neurology and European Network to Cure ALS. The work leading to these results has received funding from the European Community’s Health Seventh Framework Programme FP7/2007-2013 under grant agreement number 259867.
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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneDYNC1H1
Other namesp22; DHC1; DNCL; DYHC; HL-3; DHC1a; DNCH1; DNECL; Dnchc1; KIAA0325; DKFZp686P2245
Gene namedynein, cytoplasmic 1, heavy chain 1
Gene inheritance categorySALS genes
CategoryALTERED AXONAL TRANSPORT AND VESICLE TRAFFICKING
Chromosome14q32
Genomic CoordinatesChr14:102430865-102517135 ( +)
BackgroundMutations in Dnch1 result in progressive motor neuron degeneration in heterozygous mice, homozygotes also have Lewy-like inclusion bodies,
ResultNo association with human ALS demonstrated/ replicated
Total Mutations0
Total Affected0

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ANIMAL MODELS

                               

KEY PUBLICATIONS (4)

First_AuthorYearTitlePaper
Ahmad-Annuar2003No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disordersFull_Paper
Hafezparast2003Mutations in dynein link motor neuron degeneration to defects in retrograde transportFull_Paper
Munch2004Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALSFull_Paper
Shah2006No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approachFull_Paper
 
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