Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature-Reference-Cited by-同舟云学术

Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature

Published:2021-03-25 Issue:10 Volume:66 Page:973-981
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Khorrami Mehdi^ORCID,Tabatabaiefar Mohammad Amin^ORCID,Khorram Erfan^ORCID,Yaghini Omid^ORCID,Rezaei Mojgan^ORCID,Hejazifar Arash^ORCID,Riahinezhad Maryam^ORCID,Kheirollahi Majid^ORCID

Funder

Isfahan University of Medical Sciences

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://www.nature.com/articles/s10038-021-00919-9.pdf

Reference22 articles.

1. Yagi T, Ito D, Suzuki N. TFG-related neurologic disorders: new insights into relationships between endoplasmic reticulum and neurodegeneration. J Neuropathol Exp Neurol. 2016;75:299–305.

2. Ishiura H, Sako W, Yoshida M, Kawarai T, Tanabe O, Goto J, et al. The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Am J Hum Genet. 2012;91:320–9.

3. Khani M, Shamshiri H, Alavi A, Nafissi S, Elahi E. Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations. J Neurol Sci. 2016;369:318–23.

4. Tsai P-C, Huang Y-H, Guo Y-C, Wu H-T, Lin K-P, Tsai Y-S, et al. A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function. Neurology. 2014;83:903–12.

5. Miyabayashi T, Ochiai T, Suzuki N, Aoki M, Inui T, Okubo Y, et al. A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy. J Hum Genet. 2019;64:171–6.

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1. Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia;Annals of Clinical and Translational Neurology;2024-06-04

2. TFG regulates secretory and endosomal sorting pathways in neurons to promote their activity and maintenance;Proceedings of the National Academy of Sciences;2022-09-26

3. Mutation Screening of TFG in α‐Synucleinopathy and Amyotrophic Lateral Sclerosis;Movement Disorders;2022-05-31