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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Kinesin family member 1B

This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: MPP, HSG, HAD, CAN, Cx32
Papers using CMT2 antibodies
Myosin II functions in actin-bundle turnover in neuronal growth cones
Vallee Richard B. et al., In Nature neuroscience, 2005
... Monoclonal Anti-KIF1A, (BD Bioscience, CA), polyclonal anti-KIF1B (Bethyl Laboratories, Inc.), polyclonal anti-myosin ...
Papers on CMT2
DGAT2 Mutation in a Family with Autosomal Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
Chung et al., Seoul, South Korea. In Hum Mutat, Feb 2016
We suggest that mutation of DGAT2 is the novel underlying cause of an autosomal dominant axonal CMT2 neuropathy.
[Phenotypes of Charcot-Marie-Tooth Syndrome and Differential Diagnosis Focused in Inflammatory Neuropathies].
Iijima, Nagoya, Japan. In Brain Nerve, Jan 2016
CMT1 is the autosomal-dominant demyelinating form, and CMT1A (mostly PMP22 duplication) is the most frequent subtype, followed by CMTX1, HNPP (hereditary neuropathy with liability to pressure palsies), CMT1B, or CMT2.
[Pathology of Charcot-Marie-Tooth Disease].
Oka, Kyoto, Japan. In Brain Nerve, Jan 2016
CMT2 includes axonal neuropathies and many causative genes have been found.
[Therapy for Charcot-Marie-Tooth Disease: From the Standpoint of Neurologists].
Nakagawa, Kyoto, Japan. In Brain Nerve, Jan 2016
Stem cell research for example iPS cells derived from patients with CMT2A or CMT2E, is being conducted to clarify the mechanism of CMT and find therapeutic clues.
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Nicholson et al., Australia. In Ann Neurol, Jan 2016
OBJECTIVES: To use linkage analysis and whole exome sequencing to identify the genetic mutation in a multigenerational Australian family with Charcot-Marie-Tooth type 2 (CMT2) and pyramidal signs.
Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.
Chabrol et al., Marseille, France. In Brain Dev, Jan 2016
INTRODUCTION: The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early onset.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Dallman et al., Miami, United States. In Nat Genet, Aug 2015
Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively.
[Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)].
Mingmin et al., Shanghai, China. In Yi Chuan, Jun 2015
CMT is generally divided into three forms: demyelinating forms (CMT1), axonal forms (CMT2) and intermediate forms (DI-CMT).
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.
Paquis-Flucklinger et al., Nice, France. In Embo Mol Med, 2014
CHCHD10-related diseases include mitochondrial DNA instability disorder, frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) clinical spectrum, late-onset spinal motor neuropathy (SMAJ), and Charcot-Marie-Tooth disease type 2 (CMT2).
[Hereditary pheochromocytoma-associated syndromes. Part 1].
Beltsevich et al., In Ter Arkh, 2014
New EGLN1/PHD2, KIF1B, SDH5/SDHAF2, IDH1, TMEM127, SDHA, MAX, and HIF2A gene mutations have been recently discovered.
Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2.
Araújo et al., Brazil. In Eur Neurol, 2014
The aim of this study was to evaluate the pulmonary condition in a large family with Charcot-Marie-Tooth disease type 2 (CMT2).
The Arabidopsis nucleosome remodeler DDM1 allows DNA methyltransferases to access H1-containing heterochromatin.
Zilberman et al., Berkeley, United States. In Cell, 2013
Here, we show that most asymmetric methylation is facilitated by DDM1 and mediated by the methyltransferase CMT2 separately from RdDM.
Depletion of p31comet protein promotes sensitivity to antimitotic drugs.
Poon et al., Hong Kong, Hong Kong. In J Biol Chem, 2012
the importance of p31(comet) in checkpoint silencing and its potential as a target for antimitotic therapies.
Role of phosphorylation of Cdc20 in p31(comet)-stimulated disassembly of the mitotic checkpoint complex.
Hershko et al., Haifa, Israel. In Proc Natl Acad Sci U S A, 2012
The binding of p31(comet) to Mad2 in mitotic checkpoint complex may trigger a conformational change in Cdc20 that facilitates its phosphorylation by Cdk, and that the latter process may promote its dissociation from BubR1.
HBV-related hepatocellular carcinoma susceptibility gene KIF1B is not associated with development of chronic hepatitis B.
Li et al., Wuhan, China. In Plos One, 2011
This study showed the new locus identified for hepatocellular carcinoma, KIF1B, was not associated with progression to chronic hepatitis B.
p31comet-mediated extraction of Mad2 from the MCC promotes efficient mitotic exit.
Taylor et al., Manchester, United Kingdom. In J Cell Sci, 2011
p31(comet) negatively regulates the spindle assembly checkpoint by extracting Mad2 from the MCC.
[Molecular pathogenesis of hereditary motor and sensory neuropathy].
Kochański et al., Warsaw, Poland. In Postepy Biochem, 2010
This review presents knowledge of CMT2 and possible pathogenetic mechanisms responsible for the disease
Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers.
Zhou et al., Beijing, China. In Nat Genet, 2010
We identified one intronic SNP (rs17401966) in KIF1B on chromosome 1p36.22
Kif1b is essential for mRNA localization in oligodendrocytes and development of myelinated axons.
Talbot et al., Stanford, United States. In Nat Genet, 2009
Study shows that Kif1b is required for the localization of mbp (myelin basic protein) mRNA to processes of myelinating oligodendrocytes in zebrafish.
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis.
Hintzen et al., Rotterdam, Netherlands. In Nat Genet, 2008
Study reports a genome wide association study identifying a new locus replicated in 2,679 cases and 3,125 controls; an rs10492972[C] variant located in the KIF1B gene was associated with MS with an odds ratio of 1.35 (P = 2.5 x 10(-10)).
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