KEGG   NETWORK: N01162
Entry
N01162                      Network                                

Name
Mutation-caused aberrant PFN1 to actin polymerization
Definition
Actin(monomeric) // PFN1* // Actin(filamentous)
  Expanded
(60,71) // 5216v1 // (60,71)
Class
nt06423 Cytoskeletal regulation
nt06464 Amyotrophic lateral sclerosis
Type
Variant
Pathway
hsa05014  Amyotrophic lateral sclerosis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Gene
60  ACTB; actin beta
71  ACTG1; actin gamma 1
5216  PFN1; profilin 1
Variant
5216v1 (PFN1*)  PFN1 mutation
Reference
  Authors
Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE
  Title
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
  Journal
Nature 488:499-503 (2012)
DOI:10.1038/nature11280
Reference
  Authors
Brown RH, Al-Chalabi A
  Title
Amyotrophic Lateral Sclerosis.
  Journal
N Engl J Med 377:162-172 (2017)
DOI:10.1056/NEJMra1603471
Reference
  Authors
Yang C, Danielson EW, Qiao T, Metterville J, Brown RH Jr, Landers JE, Xu Z
  Title
Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity.
  Journal
Proc Natl Acad Sci U S A 113:E6209-E6218 (2016)
DOI:10.1073/pnas.1605964113

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