scholarly journals MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis

2011 ◽  
Author(s):  
Ki Chung
Keyword(s):  
Linkage Analysis ◽  
Early Onset ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Genome Wide ◽  
Tooth Disease

scholarly journals Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

2019 ◽  
Vol 6 (2) ◽  
pp. 201-211 ◽  
Author(s):  
Feifei Tao ◽  
Gary W. Beecham ◽  
Adriana P. Rebelo ◽  
Susan H. Blanton ◽  
John J. Moran ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Disease Type ◽  
Modifier Gene ◽  
Genome Wide Association ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Genome Wide ◽  
Tooth Disease

Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A

2018 ◽  
Vol 57 (5) ◽  
pp. E126-E128
Author(s):  
Brett A. McCray ◽  
William Hurst ◽  
Thomas O. Crawford ◽  
Thomas E. Lloyd
Keyword(s):  
Early Onset ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B

Brain ◽  
2012 ◽  
Vol 135 (7) ◽  
pp. 2032-2047 ◽  
Author(s):  
Mario A. C. Saporta ◽  
Brian R. Shy ◽  
Agnes Patzko ◽  
Yunhong Bai ◽  
Maria Pennuto ◽  
...  
Keyword(s):  
Schwann Cell ◽  
Mouse Model ◽  
Early Onset ◽  
Cell Development ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Schwann Cell Development ◽  
Tooth Disease

Two de novo mutations of MFN2 associated with early-onset Charcot-Marie-Tooth disease type 2A neuropathy

2012 ◽  
Vol 34 (6) ◽  
pp. 653-661 ◽  
Author(s):  
Khriezhanuo Nakhro ◽  
Ye Jin Kim ◽  
Ja Hyun Lee ◽  
Heasoo Koo ◽  
Byung-Ok Choi ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Disease Type ◽  
De Novo Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Suzan Boutary ◽  
Marie Caillaud ◽  
Mévidette El Madani ◽  
Jean-Michel Vallat ◽  
Julien Loisel-Duwattez ◽  
...  
Keyword(s):  
Mouse Models ◽  
Disease Type ◽  
Major Step ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Levels ◽  
Positive Effects ◽  
Severity Of The Disease ◽  
Tooth Disease

AbstractCharcot-Marie-Tooth disease type 1 A (CMT1A) lacks an effective treatment. We provide a therapy for CMT1A, based on siRNA conjugated to squalene nanoparticles (siRNA PMP22-SQ NPs). Their administration resulted in normalization of Pmp22 protein levels, restored locomotor activity and electrophysiological parameters in two transgenic CMT1A mouse models with different severity of the disease. Pathological studies demonstrated the regeneration of myelinated axons and myelin compaction, one major step in restoring function of myelin sheaths. The normalization of sciatic nerve Krox20, Sox10 and neurofilament levels reflected the regeneration of both myelin and axons. Importantly, the positive effects of siRNA PMP22-SQ NPs lasted for three weeks, and their renewed administration resulted in full functional recovery. Beyond CMT1A, our findings can be considered as a potent therapeutic strategy for inherited peripheral neuropathies. They provide the proof of concept for a new precision medicine based on the normalization of disease gene expression by siRNA.

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