Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?

Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate sensory neuron development

(2016) Olga Y. Ponomareva et al.   Neural Development

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

(2015) Nivedita U. Jerath et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Update on Charcot–Marie–Tooth disease

(2015) Laurie Gutmann et al.   CURRENT OPINION IN NEUROLOGY

Therapeutic options in Charcot–Marie–Tooth diseases

(2015) Stéphane Mathis et al.   Expert Review of Neurotherapeutics

Charcot–Marie–Tooth diseases: an update and some new proposals for the classification

(2015) Stéphane Mathis et al.   JOURNAL OF MEDICAL GENETICS

Demyelinating CMT–what’s known, what’s new and what’s in store?

(2015) Kathryn M. Brennan et al.   NEUROSCIENCE LETTERS

Therapeutic options in Charcot–Marie–Tooth diseases

(2015) Stéphane Mathis et al.   Expert Review of Neurotherapeutics

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

(2014) V Fridman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila

(2014) Katrien Janssens et al.   NEUROBIOLOGY OF DISEASE

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

(2014) A. Beilina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Vimentin phosphorylation and assembly are regulated by the small GTPase Rab7a

(2013) Laura Cogli et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

A novel RAB7 mutation in a Chinese family with Charcot–Marie–Tooth type 2B disease

(2013) Xing Wang et al.   GENE

Defective Axonal Transport of Rab7 GTPase Results in Dysregulated Trophic Signaling

(2013) K. Zhang et al.   JOURNAL OF NEUROSCIENCE

RAB7L1 Interacts with LRRK2 to Modify Intraneuronal Protein Sorting and Parkinson’s Disease Risk

(2013) David A. MacLeod et al.   NEURON

A mechanism for retromer endosomal coat complex assembly with cargo

(2013) M. S. Harrison et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function

(2013) Smita Cherry et al.   eLife

Charcot–Marie–Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin

(2012) Laura Cogli et al.   ACTA NEUROPATHOLOGICA

Rab7 Mutants Associated with Charcot-Marie-Tooth Disease Cause Delayed Growth Factor Receptor Transport and Altered Endosomal and Nuclear Signaling

(2012) Soumik BasuRay et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

CMT2B-associated Rab7 mutants inhibit neurite outgrowth

(2010) Laura Cogli et al.   ACTA NEUROPATHOLOGICA

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

Rab7 Mutants Associated with Charcot-Marie-Tooth Disease Exhibit Enhanced NGF-Stimulated Signaling

(2010) Soumik BasuRay et al.   PLoS One

Classification and diagnosis of the inherited neuropathies

(2009) MaryM Reilly   Annals of Indian Academy of Neurology

Rab7 and the CMT2B disease

(2009) Laura Cogli et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation

(2009) Brett A. McCray et al.   HUMAN MOLECULAR GENETICS

Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5

(2009) M. N. J. Seaman et al.   JOURNAL OF CELL SCIENCE

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

(2009) Wataru Satake et al.   NATURE GENETICS

Genome-wide association study reveals genetic risk underlying Parkinson's disease

(2009) Javier Simón-Sánchez et al.   NATURE GENETICS

Charcot-Marie-Tooth Disease: A Clinico-genetic Confrontation

(2008) N. Barisic et al.   ANNALS OF HUMAN GENETICS

Regulation of retromer recruitment to endosomes by sequential action of Rab5 and Rab7

(2008) Raul Rojas et al.   JOURNAL OF CELL BIOLOGY

Functional Characterization of Rab7 Mutant Proteins Associated with Charcot-Marie-Tooth Type 2B Disease

(2008) M. R. Spinosa et al.   JOURNAL OF NEUROSCIENCE