KEGG   VARIANT: 1639v1
Entry
1639v1                      Variant                                

Name
DCTN1 mutaion
Gene
DCTN1  dynactin subunit 1 [KO:K04648]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601143
Network
nt06419  Microtubule-based transport
nt06464  Amyotrophic lateral sclerosis
  Element
N01158  Mutation-caused aberrant DCTN1 to retrograde axonal transport
Reference
  Authors
Stockmann M, Meyer-Ohlendorf M, Achberger K, Putz S, Demestre M, Yin H, Hendrich C, Linta L, Heinrich J, Brunner C, Proepper C, Kuh GF, Baumann B, Langer T, Schwalenstocker B, Braunstein KE, von Arnim C, Schneuwly S, Meyer T, Wong PC, Boeckers TM, Ludolph AC, Liebau S
  Title
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.
  Journal
J Neural Transm (Vienna) 120:785-98 (2013)
DOI:10.1007/s00702-012-0910-z
Reference
  Authors
Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, Holzbaur EL
  Title
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.
  Journal
J Cell Biol 172:733-45 (2006)
DOI:10.1083/jcb.200511068
Reference
  Authors
Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH
  Title
Mutant dynactin in motor neuron disease.
  Journal
Nat Genet 33:455-6 (2003)
DOI:10.1038/ng1123
LinkDB

DBGET integrated database retrieval system