Exploration of the role of ARHGEF10 in human disease

负责人：

关键词：

Biochemistry and Molecular Medicine ARHGEF10 Charcot-Marie-Tooth Disease CMT cancer neuropathy peripheral neuropathy protein rare disease genetics

DOI：

doi:10.25549/usctheses-c40-496015

摘要：

nisms of ARHGEF10 specifically. In Chapter 3, I review the diseases ARHGEF10 is involved in, with special focus on Charcot-Marie-Tooth disease

Data from: Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions

负责人：

Burgess, Robert W.

关键词：

Peripheral neuropathy Spinal cord Sciatic nerve Metabolomics Mass Spectrometry tRNA synthetase

DOI：

doi:10.5061/dryad.ng07t

摘要：

Charcot-Marie-Tooth disease encompasses a genetically heterogeneous class of heritable polyneuropathies that result in axonal degeneration

Data from: Clinical Reasoning: Pes cavus and neuropathy: think beyond Charcot-Marie-Tooth disease

负责人：

关键词：

Clinical Neurology;Leukodystrophies;Neuromuscular Disease

DOI：

doi:10.5061/dryad.876r5m5

摘要：

owing demyelinating neuropathy (table e-1, doi.org/10.5061/dryad.876r5m5). With her history and EMG/NCS findings, she was diagnosed with Charcot-Marie-Tooth (CMT

Data from: HDAC1/2-dependent P0 expression maintains paranodal and nodal integrity independently of myelin stability through interactions

负责人：

关键词：

Myelin protein zero;Paranodes;Mus musculus;Neurofascins;Schwann cells;Node of Ranvier;Homo Sapiens;Maintenance;Histone deacetylases

DOI：

doi:10.5061/dryad.8f1bt

摘要：

with neurofascins. In addition, we show that the latter mechanism is impaired by some P0 mutations that lead to late onset Charcot-Marie-Tooth disease.