Disturbed mitochondrial dynamics and neurodegenerative disorders

F Burté, V Carelli, PF Chinnery… - Nature reviews …, 2015 - nature.com
Mitochondria form a highly interconnected tubular network throughout the cell via a dynamic
process, with mitochondrial segments fusing and breaking apart continuously. Strong …

Mechanisms of mitophagy: PINK1, Parkin, USP30 and beyond

B Bingol, M Sheng - Free Radical Biology and Medicine, 2016 - Elsevier
Mitochondrial quality control is central for maintaining a healthy population of mitochondria.
Two Parkinson's disease genes, mitochondrial kinase PINK1 and ubiquitin ligase Parkin …

Mitochondrial dynamics in mammalian health and disease

M Liesa, M Palacín, A Zorzano - Physiological reviews, 2009 - journals.physiology.org
The meaning of the word mitochondrion (from the Greek mitos, meaning thread, and
chondros, grain) illustrates that the heterogeneity of mitochondrial morphology has been …

Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease

L Cantarero, E Juárez-Escoto… - Human Molecular …, 2020 - academic.oup.com
Mutations in the GDAP1 gene cause Charcot–Marie–Tooth (CMT) neuropathy. GDAP1 is an
atypical glutathione S-transferase (GST) of the outer mitochondrial membrane and the …

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

H Houlden, M Laura, F Wavrant–De Vrièze, J Blake… - Neurology, 2008 - AAN Enterprises
Background: Charcot-Marie-Tooth disease (CMT) is the most common inherited
neuromuscular disorder and is characterized by significant clinical and genetic …

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series

R Sivera, T Sevilla, JJ Vílchez, D Martinez-Rubio… - Neurology, 2013 - AAN Enterprises
Objectives: To determine the genetic distribution and the phenotypic correlation of an
extensive series of patients with Charcot-Marie-Tooth disease in a geographically well …

Mitochondrial dynamics and inherited peripheral nerve diseases

D Pareyson, P Saveri, A Sagnelli, G Piscosquito - Neuroscience letters, 2015 - Elsevier
Peripheral nerves have peculiar energetic requirements because of considerable length of
axons and therefore correct mitochondria functioning and distribution along nerves is …

GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

L Pedrola, A Espert, X Wu, R Claramunt… - Human molecular …, 2005 - academic.oup.com
Mutations in GDAP1, the ganglioside-induced differentiation-associated protein 1 gene,
cause Charcot–Marie–Tooth (CMT) type 4A, a severe autosomal recessive form of …

Inherited peripheral neuropathies

MA Saporta, ME Shy - Neurologic clinics, 2013 - neurologic.theclinics.com
First described at the end of the nineteenth century by French neurologists Jean Martin
Charcot and Pierre Marie and British neurologist Howard Henry Tooth, Charcot-Marie-Tooth …

Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

J Berciano, A García, E Gallardo, K Peeters… - Journal of …, 2017 - Springer
Abstract Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited
neuropathy with great variety of phenotypes, inheritance patterns, and causative genes …