Associated Papers
The neuropathy-linked protein TECPR2 is a Rab5 effector that regulates cargo recycling from early endosomes.
Paul S et al.
Nature Communications, 2025
Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia.
Bhattacharya D et al.
Cell Death & Disease, 2025
Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review.
Moeinafshar A et al.
Bmc Neurology, 2024
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Khalaf-Nazzal R et al.
American Journal of Medical Genetics. Part A, 2024
Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models.
Williams LA et al.
Molecular Therapy. Nucleic Acids, 2022
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S et al.
Human Mutation, 2021
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.
Palma JA et al.
Neurology. Genetics, 2021
TECPR2 mutation-associated respiratory dysregulation: more than central apnea.
Patwari PP et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2020
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
Heimer G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Oz-Levi D et al.
American Journal of Human Genetics, 2012
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