Associated Papers
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
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.
Foronda H et al.
Nature, 2023
37225994 (PubMed )
Supplement: 41586_2023_6090_MOESM1_ESM.pdf
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
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
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.
Wakil SM et al.
Case Reports in Genetics, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
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
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Kurth I et al.
Nature Genetics, 2009
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