Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
Regulation and function of endoplasmic reticulum autophagy in neurodegenerative diseases.
Zhao XY et al.
Neural Regeneration Research, 2025
FAM134B in Cellular Homeostasis: Bridging Endoplasmic Reticulum-Phagy to Human Diseases.
Chen N et al.
International Journal of Biological Sciences, 2025
Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy.
Çakar A et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Molecular characterization of wild-type and HSAN2B-linked FAM134B.
Kanamori A et al.
Molecular Biology Reports, 2023
Curvature induction and membrane remodeling by FAM134B reticulon homology domain assist selective ER-phagy.
Bhaskara RM et al.
Nature Communications, 2019
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
Novel FAM134B mutations and their clinicopathological significance in colorectal cancer.
Islam F et al.
Human Genetics, 2017
Regulation of endoplasmic reticulum turnover by selective autophagy.
Khaminets A et al.
Nature, 2015
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Davidson G et al.
Journal of Neurology, 2012
Mutation in FAM134B causing severe hereditary sensory neuropathy.
Murphy SM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
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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