Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy.
Cook SR et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Novel stop-gain RNF170 variation detected in a Chinese family with adolescent-onset hereditary spastic paraplegia.
Fu JX et al.
Clinical Genetics, 2023
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.
Chouery E et al.
Neurogenetics, 2022
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects.
Cortese A et al.
Practical Neurology, 2022
RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.
Van Daele SH et al.
European Journal of Neurology, 2022
Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.
Saputra L et al.
Current Neurology and Neuroscience Reports, 2021
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.
Cortese A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
The emerging link between IP3 receptor turnover and Hereditary Spastic Paraplegia.
Gao X et al.
Cell Calcium, 2020
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Wagner M et al.
Nature Communications, 2019
The erlin2 T65I mutation inhibits erlin1/2 complex-mediated inositol 1,4,5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding.
Wright FA et al.
The Journal of Biological Chemistry, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia.
Kim Y et al.
Human Molecular Genetics, 2015
A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling.
Wright FA et al.
The Journal of Biological Chemistry, 2015
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
Valdmanis PN et al.
Brain : a Journal of Neurology, 2011