Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.
Document Type
Article
Publication Date
11-1-2022
Publication Title
Journal of anatomy
Keywords
JMG, Animals, Charcot-Marie-Tooth Disease, Disease Models, Animal, Hereditary Sensory and Autonomic Neuropathies, Humans, Ligases, Mice, Mutation, Peripheral Nervous System Diseases, RNA, Transfer, Serine C-Palmitoyltransferase
JAX Source
J Anat. 2022;241(5):1169-85.
Volume
241
Issue
5
First Page
1169
Last Page
1185
ISSN
1469-7580
PMID
34875719
DOI
https://doi.org/10.1111/joa.13605
Grant
National Institutes of Health, Grant/ Award Number: R37 NS054154, R24 NS098523, R01 NS113583 and CA34196; Swiss National Science Foundation, Grant/ Award Number: SNF 31003A_179371; European Joint Programme on Rare Diseases, Grant/Award Number: EJP RD+SNF 32ER30_187505
Abstract
Animal models of neurodegenerative diseases such as inherited peripheral neuropathies sometimes accurately recreate the pathophysiology of the human disease, and sometimes accurately recreate the genetic perturbations found in patients. Ideally, models achieve both, but this is not always possible; nonetheless, such models are informative. Here we describe two animal models of inherited peripheral neuropathy: mice with a mutation in tyrosyl tRNA-synthetase, Yars
Recommended Citation
Hines T,
Tadenev A,
Lone M,
Hatton C,
Bagasrawala I,
Stum MG,
Miers K,
Hornemann T,
Burgess RW.
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1. J Anat. 2022;241(5):1169-85.