TY  - GEN
AU  - Franco, María Luisa
AU  - Melero, Cristina
AU  - Sarasola, Esther
AU  - Acebo, Paloma
AU  - Luque, Alfonso
AU  - Calatayud-Baselga, Isabel
AU  - García-Barcina, María
AU  - Vilar, Marçal
PY  - 2016
DO  - 10.1074/jbc.M116.722587
SN  - 0021-9258
UR  - http://hdl.handle.net/20.500.12105/9667
AB  - Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by insensitivity to noxious stimuli and variable intellectual disability (ID) due to mutations in the NTRK1 gene encoding the NGF receptor...
LA  - eng
PB  - American Society for Biochemistry and Molecular Biology (ASBMB)
KW  - ER quality control
KW  - TRK1-transforming tyrosine kinase protein (Trk-A)
KW  - Autophagic flux
KW  - Autophagy
KW  - Congenital insensitivity to pain with anhidrosis
KW  - Neurodegeneration
KW  - Protein aggregation
KW  - Adolescent
KW  - Amino Acid Substitution
KW  - Animals
KW  - Cerebral Cortex
KW  - Female
KW  - HeLa Cells
KW  - Humans
KW  - Hypohidrosis
KW  - Male
KW  - Mice
KW  - Mice, Mutant Strains
KW  - Neurodegenerative Diseases
KW  - Nociceptors
KW  - Pain Insensitivity, Congenital
KW  - Protein Aggregation, Pathological
KW  - Proteostasis Deficiencies
KW  - Receptor, trkA
KW  - Autophagy
KW  - Mutation, Missense
TI  - Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux
TY  - research article
ER  -