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CMT2B

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https://www.readbyqxmd.com/read/27462242/factors-affecting-phenotype-variability-in-a-family-with-cmt2b-gender-and-lrsam1-genotype
#1
Leema Reddy Peddareddygari, Kinsi Oberoi, Jaasrini Reddy Vellore, Raji P Grewal
Charcot-Marie-Tooth disease type 2 (CMT2) is an autosomal dominant axonal neuropathy caused by mutations in various genes. The subtype CMT2B results from missense mutations in RAB7A, member RAS oncogene family gene, whereas missense mutations in the Leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) gene cause CMT2P. We describe the genotype/phenotype analysis of a family in which a previously described mutation in the RAB7A gene and a novel mutation in the LRSAM1 gene were identified...
May 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/26791407/charcot-marie-tooth-2b-associated-rab7-mutations-cause-axon-growth-and-guidance-defects-during-vertebrate-sensory-neuron-development
#2
Olga Y Ponomareva, Kevin W Eliceiri, Mary C Halloran
BACKGROUND: Charcot-Marie-Tooth2b (CMT2b) is an axonal form of a human neurodegenerative disease that preferentially affects sensory neurons. CMT2b is dominantly inherited and is characterized by unusually early onset, presenting in the second or third decade of life. Five missense mutations in the gene encoding Rab7 GTPase have been identified as causative in human CMT2b disease. Although several studies have modeled CMT2b disease in cultured neurons and in Drosophila, the mechanisms by which defective Rab7 leads to disease remain poorly understood...
January 20, 2016: Neural Development
https://www.readbyqxmd.com/read/26362287/charcot-marie-tooth-disease-new-insights-from-skin-biopsy
#3
Fiore Manganelli, Maria Nolano, Chiara Pisciotta, Vincenzo Provitera, Gian M Fabrizi, Tiziana Cavallaro, Annamaria Stancanelli, Giuseppe Caporaso, Michael E Shy, Lucio Santoro
OBJECTIVE: To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes (CMT1A, late-onset CMT1B, and CMTX1), and rarer forms of CMT caused by mutations in RAB7 (CMT2B), TRPV4 (CMT2C), and GDAP1 (AR-CMT2K) genes. METHODS: We investigated axonal loss by quantifying Meissner corpuscles and intrapapillary myelinated endings and evaluated morphometric changes in myelinated dermal nerve fibers by measuring fiber caliber, internodal, and nodal gap length...
October 6, 2015: Neurology
https://www.readbyqxmd.com/read/24521780/human-rab7-mutation-mimics-features-of-charcot-marie-tooth-neuropathy-type-2b-in-drosophila
#4
Katrien Janssens, Sofie Goethals, Derek Atkinson, Biljana Ermanoska, Erik Fransen, Albena Jordanova, Michaela Auer-Grumbach, Bob Asselbergh, Vincent Timmerman
Charcot-Marie-Tooth disease type 2B (CMT2B) is an inherited axonal peripheral neuropathy. It is characterised by prominent sensory loss, often complicated by severe ulcero-mutilations of toes or feet, and variable motor involvement. Missense mutations in RAB7A, the gene encoding the small GTPase Rab7, cause CMT2B and increase Rab7 activity. Rab7 is ubiquitously expressed and is involved in degradation through the lysosomal pathway. In the neurons, Rab7 plays a role in the long-range retrograde transport of signalling endosomes in the axons...
May 2014: Neurobiology of Disease
https://www.readbyqxmd.com/read/24513337/a-novel-rab7-mutation-in-a-chinese-family-with-charcot-marie-tooth-type-2b-disease
#5
Xing Wang, Chunmao Han, Wenqiang Liu, Ping Wang, Xianqin Zhang
Charcot-Marie-Tooth type 2B (CMT2B) disease is a hereditary motor and sensory neuropathy subtype characterized by prominent loss of sensation, distal muscle weakness and wasting skin ulcers. Recurrent ulcers often require amputation of lower limbs. To date, only four mutations of the RAB7 gene, which encodes the small GTPase, have been associated with CMT2B. A Chinese family with CMT2B was characterzied, Direct DNA sequencing performed on the affected individuals in this family revealed a novel mutation (p...
October 26, 2013: Gene
https://www.readbyqxmd.com/read/24498653/a-novel-rab7-mutation-in-a-chinese-family-with-charcot-marie-tooth-type-2b-disease
#6
Xing Wang, Chunmao Han, Wenqiang Liu, Ping Wang, Xianqin Zhang
Charcot–Marie–Tooth type 2B (CMT2B) disease is a hereditary motor and sensory neuropathy subtype characterized by prominent loss of sensation, distal muscle weakness and wasting skin ulcers. Recurrent ulcers often require amputation of lower limbs. To date, only four mutations of the RAB7 gene, which encodes the small GTPase, have been associated with CMT2B. A Chinese family with CMT2B was identified. Direct DNA sequencing performed on the affected individuals in this family revealed a novel mutation (p...
January 25, 2014: Gene
https://www.readbyqxmd.com/read/24327558/charcot-marie-tooth-2b-mutations-in-rab7-cause-dosage-dependent-neurodegeneration-due-to-partial-loss-of-function
#7
Smita Cherry, Eugene Jennifer Jin, Mehmet Neset Ozel, Zhiyuan Lu, Egemen Agi, Dong Wang, Wei-Hung Jung, Daniel Epstein, Ian A Meinertzhagen, Chih-Chiang Chan, P Robin Hiesinger
The small GTPase Rab7 is a key regulator of endosomal maturation in eukaryotic cells. Mutations in rab7 are thought to cause the dominant neuropathy Charcot-Marie-Tooth 2B (CMT2B) by a gain-of-function mechanism. Here we show that loss of rab7, but not overexpression of rab7 CMT2B mutants, causes adult-onset neurodegeneration in a Drosophila model. All CMT2B mutant proteins retain 10-50% function based on quantitative imaging, electrophysiology, and rescue experiments in sensory and motor neurons in vivo. Consequently, expression of CMT2B mutants at levels between 0...
December 10, 2013: ELife
https://www.readbyqxmd.com/read/23616551/defective-axonal-transport-of-rab7-gtpase-results-in-dysregulated-trophic-signaling
#8
Kai Zhang, Rotem Fishel Ben Kenan, Yasuko Osakada, Wei Xu, Rachel S Sinit, Liang Chen, Xiaobei Zhao, Jia-Yun Chen, Bianxiao Cui, Chengbiao Wu
Retrograde trophic signaling of nerve growth factor (NGF) supports neuronal survival and differentiation. Dysregulated trophic signaling could lead to various neurological disorders. Charcot-Marie-Tooth type 2B (CMT2B) is one of the most common inherited peripheral neuropathies characterized by severe terminal axonal loss. Genetic analysis of human CMT2B patients has revealed four missense point mutations in Rab7, a small GTPase that regulates late endosomal/lysosomal pathways, but the exact pathological mechanism remains poorly understood...
April 24, 2013: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/23188822/rab7-mutants-associated-with-charcot-marie-tooth-disease-cause-delayed-growth-factor-receptor-transport-and-altered-endosomal-and-nuclear-signaling
#9
Soumik BasuRay, Sanchita Mukherjee, Elsa G Romero, Matthew N J Seaman, Angela Wandinger-Ness
Rab7 belongs to the Ras superfamily of small GTPases and is a master regulator of early to late endocytic membrane transport. Four missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease. As yet, the pathological mechanisms connecting mutant Rab7 protein expression to altered neuronal function are undefined. Here, we analyze the effects of Rab7 CMT2B mutants on epidermal growth factor (EGF)-dependent intracellular signaling and trafficking...
January 11, 2013: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/23179371/charcot-marie-tooth-type-2b-disease-causing-rab7a-mutant-proteins-show-altered-interaction-with-the-neuronal-intermediate-filament-peripherin
#10
Laura Cogli, Cinzia Progida, Claire L Thomas, Bradley Spencer-Dene, Claudia Donno, Giampietro Schiavo, Cecilia Bucci
Charcot-Marie-Tooth type 2B (CMT2B) is a peripheral ulcero-mutilating neuropathy caused by four missense mutations in the rab7a gene. CMT2B is clinically characterized by prominent sensory loss, distal muscle weakness leading to muscle atrophy, high frequency of foot ulcers and infections that often results in toe amputations. RAB7A is a ubiquitous small GTPase, which controls transport to late endocytic compartments. Although the biochemical and functional properties of disease-causing RAB7A mutant proteins have been investigated, it is not yet clear how the disease originates...
February 2013: Acta Neuropathologica
https://www.readbyqxmd.com/read/23176482/molecular-basis-of-charcot-marie-tooth-type-2b-disease
#11
Cecilia Bucci, Maria De Luca
CMT2B (Charcot-Marie-Tooth type 2B) disease is an autosomal dominant peripheral neuropathy whose onset is in the second or third decade of life, thus in adolescence or young adulthood. CMT2B is clinically characterized by severe symmetric distal sensory loss, reduced tendon reflexes at ankles, weakness in the lower limbs and muscle atrophy, complicated by ulcerations that often lead to amputations. Four missense mutations in the gene encoding the small GTPase Rab7 cause the CMT2B neuropathy. Rab7 is a ubiquitous protein that regulates transport to late endosomes and lysosomes in the endocytic pathway...
December 1, 2012: Biochemical Society Transactions
https://www.readbyqxmd.com/read/22971099/autonomic-nervous-system-involvement-in-a-new-cmt2b-family
#12
Fiore Manganelli, Chiara Pisciotta, Vincenzo Provitera, Federica Taioli, Rosa Iodice, Antonietta Topa, Gian Maria Fabrizi, Maria Nolano, Lucio Santoro
We describe the first Italian family affected by CMT2B carrying a Val162Met substitution in the RAB7 gene. The clinical and electrophysiological features of our family are similar to those of previously reported families with RAB7 mutations, also for the higher occurrence of ulcers in males. However, in this family we evaluated the autonomic nervous system, never investigated in CMT2B, by means of skin biopsy and sudomotor and cardiovascular tests. Our findings provide both pathological and functional evidence of autonomic nervous system involvement in CMT2B and expand the phenotypic characterization of CMT2B disease...
September 2012: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/22729098/dynamin-2-in-charcot-marie-tooth-disease
#13
REVIEW
Kenji Tanabe, Kohji Takei
Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton. A large GTPase, dynamin, which is known as a fission protein for endocytic vesicles, was identified as a gene responsible for dominant-intermediate CMT type 2B (DI-CMT2B). Of these mutants, the PH domain, which is required for interaction with phosphoinositides, was mutated in several families. Interestingly, the expression of a deletion mutant, 551Δ3, did not impair endocytosis, but induced abnormal accumulation of microtubules...
2012: Acta Medica Okayama
https://www.readbyqxmd.com/read/21151572/rab7-mutants-associated-with-charcot-marie-tooth-disease-exhibit-enhanced-ngf-stimulated-signaling
#14
Soumik BasuRay, Sanchita Mukherjee, Elsa Romero, Michael C Wilson, Angela Wandinger-Ness
Missense mutants in the late endosomal Rab7 GTPase cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth disease type 2B (CMT2B). As yet, the pathological mechanisms connecting mutant Rab7 protein expression to altered neuronal function are undefined. Here, we analyze the effects Rab7 CMT2B mutants on nerve growth factor (NGF) dependent intracellular signaling in PC12 cells. The nerve growth factor receptor TrkA interacted similarly with Rab7 wild-type and CMT2B mutant proteins, but the mutant proteins significantly enhanced TrkA phosphorylation in response to brief NGF stimulation...
2010: PloS One
https://www.readbyqxmd.com/read/20645406/the-mood-stabilizer-valproic-acid-improves-defective-neurite-formation-caused-by-charcot-marie-tooth-disease-associated-mutant-rab7-through-the-jnk-signaling-pathway
#15
Junji Yamauchi, Tomohiro Torii, Shinji Kusakawa, Atsushi Sanbe, Kazuaki Nakamura, Shou Takashima, Hajime Hamasaki, Shogo Kawaguchi, Yuki Miyamoto, Akito Tanoue
Charcot-Marie-Tooth (CMT) disease is the most frequent peripheral neuropathy affecting the Schwann cells and neurons. CMT disease type 2 (CMT2) neuropathies are characterized by peripheral nerve aberrance. Four missense mutations of Rab7, a small GTPase of the Rab family involved in intracellular vesicular trafficking, are associated with the CMT2B phenotype. Despite a growing body of evidence concerning the gene structures responsible for genetically heterogenous CMT2B and other CMT2 neuropathies, little is known about the in vitro neuropathy model and how CMT2B-associated mutation-caused aberrant neuritogenesis is properly reversed...
November 1, 2010: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/20464402/cmt2b-associated-rab7-mutants-inhibit-neurite-outgrowth
#16
Laura Cogli, Cinzia Progida, Raffaella Lecci, Roberta Bramato, Alex Krüttgen, Cecilia Bucci
Charco-Marie-Tooth type 2B (CMT2B) neuropathy is a rare autosomal-dominant axonal disorder characterized by distal weakness, muscle atrophy, and prominent sensory loss often complicated by foot ulcerations. CMT2B is associated with mutations of the Rab7 protein, a small GTPase controlling late endocytic traffic. Currently, it is still unknown how these mutations cause the neuropathy. Indeed, CMT2B selectively affects neuronal processes, despite the ubiquitous expression of Rab7. Therefore, this study focused on whether these disorder-associated mutations exert an effect on neurite outgrowth...
October 2010: Acta Neuropathologica
https://www.readbyqxmd.com/read/19754445/rab7-and-the-cmt2b-disease
#17
REVIEW
Laura Cogli, Francesco Piro, Cecilia Bucci
The CMT2B (Charcot-Marie-Tooth type 2B) disease is an autosomal dominant axonal neuropathy. Sensory loss, distal muscle weakness and wasting, frequent foot ulcers and amputations of the toes due to frequent infections characterize this neuropathy. Four missense mutations in the rab7 gene have been identified as causative of the disease. Rab7 is a small G-protein of the Rab family that controls vesicular transport to late endosomes and lysosomes in the endocytic pathway. The CMT2B-associated mutant Rab7 proteins show altered nucleotide dissociation rates and impaired GTPase activity...
October 2009: Biochemical Society Transactions
https://www.readbyqxmd.com/read/19651702/genes-for-hereditary-sensory-and-autonomic-neuropathies-a-genotype-phenotype-correlation
#18
Annelies Rotthier, Jonathan Baets, Els De Vriendt, An Jacobs, Michaela Auer-Grumbach, Nicolas Lévy, Nathalie Bonello-Palot, Sara Sebnem Kilic, Joachim Weis, Andrés Nascimento, Marielle Swinkels, Moyo C Kruyt, Albena Jordanova, Peter De Jonghe, Vincent Timmerman
Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive forms of HSAN (WNK1/HSN2, NTRK1, NGFB, CCT5 and IKBKAP). We performed a systematic mutation screening of the coding sequences of six of these genes on a cohort of 100 familial and isolated patients diagnosed with HSAN...
October 2009: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/18501189/characterization-of-the-rab7k157n-mutant-protein-associated-with-charcot-marie-tooth-type-2b
#19
Azzurra De Luca, Cinzia Progida, Maria Rita Spinosa, Pietro Alifano, Cecilia Bucci
Four missense mutations, that target highly conserved amino acid residues in the small GTPase Rab7, have been associated with the Charcot-Marie-Tooth (CMT) type 2B phenotype. CMT2B peripheral axonal neuropathies are characterized by severe sensory loss, often complicated by infections, arthropathy, and amputations. Here, we have investigated the biochemical and functional properties of the Rab7 K157N mutated protein. Interestingly, Rab7 K157N showed altered nucleotide exchange rate and GTP hydrolysis compared to the wild type protein...
July 25, 2008: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/18272684/functional-characterization-of-rab7-mutant-proteins-associated-with-charcot-marie-tooth-type-2b-disease
#20
Maria Rita Spinosa, Cinzia Progida, Azzurra De Luca, Anna Maria Rosaria Colucci, Pietro Alifano, Cecilia Bucci
Charcot-Marie-Tooth (CMT) type 2 neuropathies are a group of autosomal-dominant axonal disorders genetically and clinically heterogeneous. In particular, CMT type 2B (CMT2B) neuropathies are characterized by severe sensory loss, often complicated by infections, arthropathy, and amputations. Recently, four missense mutations in the small GTPase Rab7 associated with the Charcot-Marie Tooth type 2B phenotype have been identified. These mutations target highly conserved amino acid residues. However, nothing is known about whether and how these mutations affect Rab7 function...
February 13, 2008: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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