Associated Papers
FAM134B in Cellular Homeostasis: Bridging Endoplasmic Reticulum-Phagy to Human Diseases.
Chen N et al.
International Journal of Biological Sciences, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy.
Çakar A et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.
Park GY et al.
Frontiers in Genetics, 2019
RETREG1 (FAM134B): A new player in human diseases: 15 years after the discovery in cancer.
Islam F et al.
Journal of Cellular Physiology, 2018
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Kurth I et al.
Nature Genetics, 2009
Late-onset hereditary sensory and autonomic neuropathy type 2B caused by novel compound heterozygous mutations in FAM134B presenting as chronic recurrent ulcers on the soles.
Luo ZY et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
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