KEGG   VARIANT: 7277v1
Entry
7277v1                      Variant                                

Name
TUBA4A mutation
Gene
TUBA4A  tubulin alpha 4a [KO:K07374]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191110
Network
nt06419  Microtubule-based transport
nt06464  Amyotrophic lateral sclerosis
  Element
N01159  Mutation-caused aberrant TUBA4A to retrograde axonal transport
Reference
  Authors
Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Perez J, Munoz-Blanco JL, Simpson M, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Soraru G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Garcia-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE
  Title
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
  Journal
Neuron 84:324-31 (2014)
DOI:10.1016/j.neuron.2014.09.027
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