KEGG   NETWORK: N01164
Entry
N01164                      Network                                

Name
Mutation-inactivated ERBB4 to NRG-ERBB4-PI3K signaling pathway
Definition
NRG // ERBB4*
  Expanded
(3084,9542,10718,145957) // 2066v1
Class
nt06415 PI3K signaling
nt06464 Amyotrophic lateral sclerosis
Type
Variant
Pathway
hsa05014  Amyotrophic lateral sclerosis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Gene
3084  NRG1; neuregulin 1
9542  NRG2; neuregulin 2
10718  NRG3; neuregulin 3
145957  NRG4; neuregulin 4
2066  ERBB4; erb-b2 receptor tyrosine kinase 4
Variant
2066v1 (ERBB4*)  ERBB4 mutation
Reference
  Authors
Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G, Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S
  Title
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
  Journal
Am J Hum Genet 93:900-5 (2013)
DOI:10.1016/j.ajhg.2013.09.008
Reference
  Authors
Takahashi Y, Uchino A, Shioya A, Sano T, Matsumoto C, Numata-Uematsu Y, Nagano S, Araki T, Murayama S, Saito Y
  Title
Altered immunoreactivity of ErbB4, a causative gene product for ALS19, in the spinal cord of patients with sporadic ALS.
  Journal
Neuropathology 39:268-278 (2019)
DOI:10.1111/neup.12558
Reference
  Authors
Modol-Caballero G, Santos D, Navarro X, Herrando-Grabulosa M
  Title
Neuregulin 1 Reduces Motoneuron Cell Death and Promotes Neurite Growth in an in Vitro Model of Motoneuron Degeneration.
  Journal
Front Cell Neurosci 11:431 (2017)
DOI:10.3389/fncel.2017.00431
Reference
  Authors
Mathis S, Goizet C, Soulages A, Vallat JM, Masson GL
  Title
Genetics of amyotrophic lateral sclerosis: A review.
  Journal
J Neurol Sci 399:217-226 (2019)
DOI:10.1016/j.jns.2019.02.030
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