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https://www.readbyqxmd.com/read/27810918/chchd10-mutations-and-motor-neuron-disease-the-distribution-in-finnish-patients
#1
Sini Penttilä, Manu Jokela, Anna Maija Saukkonen, Jari Toivanen, Johanna Palmio, Janne Lähdesmäki, Satu Sandell, Mariia Shcherbii, Mari Auranen, Emil Ylikallio, Henna Tyynismaa, Bjarne Udd
No abstract text is available yet for this article.
November 3, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27631878/mitochondrial-chchd-containing-proteins-physiologic-functions-and-link-with-neurodegenerative-diseases
#2
Zhi-Dong Zhou, Wuan-Ting Saw, Eng-King Tan
The coiled-coil-helix-coiled-coil-helix domain (CHCHD)-containing proteins are evolutionarily conserved nucleus-encoded small mitochondrial proteins with important functions. So far, nine members have been identified in this protein family. All CHCHD proteins have at least one functional coiled-coil-helix-coiled-coil-helix (CHCH) domain, which is stabilized by two pairs of disulfide bonds between two helices. CHCHD proteins have various important pathophysiological roles in mitochondria and other key cellular processes...
September 8, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27578015/identification-of-chchd10-mutation-in-chinese-patients-with-alzheimer-disease
#3
Tingting Xiao, Bin Jiao, Weiwei Zhang, Chuzheng Pan, Jingya Wei, Xiaoyan Liu, Yafang Zhou, Lin Zhou, Beisha Tang, Lu Shen
CHCHD10 gene has been identified to be associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Considering the clinical phenotype and pathology characterization were overlapped between FTD and Alzheimer disease (AD), and so far, no systematic analysis of CHCHD10 mutation was conducted in patients with AD in Asian population. Therefore, we screened of all exons in CHCHD10 in a cohort of 484 AD patients (60 with family history) from Mainland China. A heterozygous variant p.A35D (c...
August 30, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27538057/amyotrophic-lateral-sclerosis-recent-genetic-highlights
#4
Matthew A White, Jemeen Sreedharan
PURPOSE OF REVIEW: Amyotrophic lateral sclerosis (ALS), like other neurodegenerative diseases, remains incurable, but gene mutations linked to ALS are providing clues as to how to target therapies. It is important for researchers to keep abreast of the rapid influx of new data in ALS, and we aim to summarize the major genetic advances made in the field over the past 2 years. RECENT FINDINGS: Significant variation in seven genes has recently been found in ALS: TBK1, CCNF, GLE1, MATR3, TUBA4A, CHCHD10 and NEK1...
October 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27095681/genetic-analysis-of-chchd10-in-french-familial-amyotrophic-lateral-sclerosis-patients
#5
Elisa Teyssou, Laura Chartier, Mélanie Albert, Alexandra Bouscary, Jean-Christophe Antoine, Jean-Philippe Camdessanché, Francesco Rotolo, Philippe Couratier, François Salachas, Danielle Seilhean, Stéphanie Millecamps
Mutations in CHCHD10 have been reported as the cause of a large panel of neurologic disorders. To confirm the contribution of this gene to amyotrophic lateral sclerosis (ALS) disease, we analyzed the 4 coding exons of CHCHD10 by Sanger sequencing in a cohort of 118 French familial ALS already excluded for all known ALS-related genes. We did not find any pathogenic mutation suggesting that CHCHD10 is not a major genetic cause of familial ALS, in France.
June 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27077676/chchd10-is-not-a-frequent-causative-gene-in-chinese-als-patients
#6
Xiao Ling Li, Shi Shu, Xiao Guang Li, Qing Liu, Fang Liu, Bo Cui, Ming Sheng Liu, Bin Peng, Li Ying Cui, Xue Zhang
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by the death of motor neurons. Recently, mutations in CHCHD10 have been reported to cause ALS in Western populations. In the present study, direct DNA sequencing has been performed on CHCHD10 in a cohort of 294 ALS patients of Chinese Han origin. No mutations were identified in CHCHD10 in ALS cases of Chinese ancestry. We propose CHCHD10 might not be a frequent causal gene among Chinese with ALS.
July 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27066538/chchd10-variant-p-gly66val-causes-axonal-charcot-marie-tooth-disease
#7
Mari Auranen, Emil Ylikallio, Maria Shcherbii, Anders Paetau, Sari Kiuru-Enari, Jussi P Toppila, Henna Tyynismaa
OBJECTIVE: We describe the phenotype consistent with axonal Charcot-Marie-Tooth disease type 2 (CMT2) in 4 families with a c.197G>T (p.(Gly66Val)) variant in CHCHD10. METHODS: We sequenced the CHCHD10 gene in a cohort of 107 families with CMT2 of unknown etiology. The patients were characterized by clinical examination and electroneuromyography. Muscle MRI and biopsy of the muscle or nerve were performed in selected cases. Neuropathologic autopsy was performed in 1 case...
June 2015: Neurology. Genetics
https://www.readbyqxmd.com/read/27056076/mutation-screening-of-the-chchd10-gene-in-chinese-patients-with-amyotrophic-lateral-sclerosis
#8
QingQing Zhou, YongPing Chen, QianQian Wei, Bei Cao, Ying Wu, Bi Zhao, RuWei Ou, Jing Yang, XuePing Chen, Shinji Hadano, Hui-Fang Shang
Mutations in the coiled-coil-helix-coiled-coil-helix domain-containing protein 10 gene (CHCHD10), involved in mitochondrial function, have recently been reported as a causative gene of amyotrophic lateral sclerosis (ALS). The aim of this study was to obtain the mutation prevalence of CHCHD10 and the phenotypes with mutations in Chinese ALS patients. A cohort of 499 ALS patients including 487 sporadic ALS (SALS) and 12 familial ALS (FALS), from the Department of Neurology, West China Hospital of Sichuan University, were screened for mutations of all exons of the CHCHD10 gene by Sanger sequencing...
April 7, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/26999347/distinct-muscle-biopsy-findings-in-genetically-defined-adult-onset-motor-neuron-disorders
#9
Manu Jokela, Sanna Huovinen, Olayinka Raheem, Mikaela Lindfors, Johanna Palmio, Sini Penttilä, Bjarne Udd
The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. Distinct large fiber type grouping consisting of non-atrophic type IIA muscle fibers were 100% specific for the late-onset spinal muscular atrophies (SMAJ and SBMA) and were never observed in c9ALS...
2016: PloS One
https://www.readbyqxmd.com/read/26804609/mutational-analysis-of-tbk1-in-taiwanese-patients-with-amyotrophic-lateral-sclerosis
#10
Pei-Chien Tsai, Yi-Chien Liu, Kon-Ping Lin, Yo-Tsen Liu, Yi-Chu Liao, Cheng-Tsung Hsiao, Bing-Wen Soong, Ping-Keung Yip, Yi-Chung Lee
Mutations in the TBK1 gene were just recently identified to cause amyotrophic lateral sclerosis (ALS), and their role in ALS in various populations remains unclear. The aim of this study was to determine the frequency and spectrum of mutations in TBK1 in a Taiwanese ALS cohort of Han Chinese origin. Mutational analyses of TBK1 were carried out by direct nucleotide sequencing in a cohort of 207 unrelated patients with ALS. Among them, the genetic diagnoses of 168 patients remained elusive after mutations in SOD1, C9ORF72, TARDBP, FUS, ATXN2, OPTN, VCP, UBQLN2, SQSTM1, PFN1, HNRNPA1, HNRNPA2B1, MATR3, CHCHD10, and TUBA4A had been excluded...
April 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/26344877/the-chchd10-p34s-variant-is-not-associated-with-als-in-a-uk-cohort-of-familial-and-sporadic-patients
#11
Chun Hao Wong, Simon Topp, Athina Soragia Gkazi, Claire Troakes, Jack W Miller, Martina de Majo, Janine Kirby, Pamela J Shaw, Karen E Morrison, Jacqueline de Belleroche, Caroline A Vance, Ammar Al-Chalabi, Safa Al-Sarraj, Christopher E Shaw, Bradley N Smith
Mutations in CHCHD10 have recently been reported as a cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. To address the genetic contribution of CHCHD10 to ALS, we have screened a cohort of 425 UK ALS ± frontotemporal dementia patients and 576 local controls in all coding exons of CHCHD10 by Sanger sequencing. We identified a previously reported p.P34S variant that is also present in neurologically healthy controls (p = 0.58). Our results suggest that CHCHD10 is not a primary cause of ALS in UK cases...
October 2015: Neurobiology of Aging
https://www.readbyqxmd.com/read/26224640/intrafamilial-clinical-variability-in-individuals-carrying-the-chchd10-mutation-gly66val
#12
P Pasanen, L Myllykangas, M Pöyhönen, S Kiuru-Enari, P J Tienari, H Laaksovirta, J Toppila, E Ylikallio, H Tyynismaa, M Auranen
OBJECTIVES: Mutations in the CHCHD10 gene, which encodes a mitochondrially targeted protein, have emerged as an important cause of motor neuron disease and frontotemporal lobar degeneration. The aim of this study was to assess the clinical variability in a large family carrying the p.Gly66Val mutation of the CHCHD10 gene. This mutation has recently been reported to cause late-onset spinal muscular atrophy (SMAJ) or sensorimotor axonal Charcot-Marie-Tooth neuropathy (CMT2) in the Finnish population...
May 2016: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/25726362/chch10-mutations-in-an-italian-cohort-of-familial-and-sporadic-amyotrophic-lateral-sclerosis-patients
#13
Adriano Chiò, Gabriele Mora, Mario Sabatelli, Claudia Caponnetto, Bryan J Traynor, Janel O Johnson, Mike A Nalls, Andrea Calvo, Cristina Moglia, Giuseppe Borghero, Maria Rosaria Monsurrò, Vincenzo La Bella, Paolo Volanti, Isabella Simone, Fabrizio Salvi, Francesco O Logullo, Riva Nilo, Stefania Battistini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Marcella Zollino, Francesca L Conforti, Maura Brunetti, Marco Barberis, Gabriella Restagno, Silvana Penco, Christian Lunetta
Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n = 64) and apparently sporadic ALS (n = 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS...
April 2015: Neurobiology of Aging
https://www.readbyqxmd.com/read/25428574/late-onset-spinal-motor-neuronopathy-is-caused-by-mutation-in-chchd10
#14
Sini Penttilä, Manu Jokela, Heidi Bouquin, Anna Maija Saukkonen, Jari Toivanen, Bjarne Udd
OBJECTIVE: A study was undertaken to identify the responsible gene defect underlying late onset spinal motor neuronopathy (LOSMoN/SMAJ; Online Mendelian Inheritance in Man #615048), an autosomal dominant disease mapped to chromosome 22q11.2. METHODS: The previous genetic linkage approach by microsatellite haplotyping was continued in new families. A whole genome sequencing was performed to find all possibly pathogenic mutations in the linked area. The detected variations were verified by Sanger sequencing...
January 2015: Annals of Neurology
https://www.readbyqxmd.com/read/25193783/mutation-in-the-novel-nuclear-encoded-mitochondrial-protein-chchd10-in-a-family-with-autosomal-dominant-mitochondrial-myopathy
#15
Senda Ajroud-Driss, Faisal Fecto, Kaouther Ajroud, Irfan Lalani, Sarah E Calvo, Vamsi K Mootha, Han-Xiang Deng, Nailah Siddique, Albert J Tahmoush, Terry D Heiman-Patterson, Teepu Siddique
Mitochondrial myopathies belong to a larger group of systemic diseases caused by morphological or biochemical abnormalities of mitochondria. Mitochondrial disorders can be caused by mutations in either the mitochondrial or nuclear genome. Only 5% of all mitochondrial disorders are autosomal dominant. We analyzed DNA from members of the previously reported Puerto Rican kindred with an autosomal dominant mitochondrial myopathy (Heimann-Patterson et al. 1997). Linkage analysis suggested a putative locus on the pericentric region of the long arm of chromosome 22 (22q11)...
January 2015: Neurogenetics
https://www.readbyqxmd.com/read/25155093/screening-of-chchd10-in-a-french-cohort-confirms-the-involvement-of-this-gene-in-frontotemporal-dementia-with-amyotrophic-lateral-sclerosis-patients
#16
Annabelle Chaussenot, Isabelle Le Ber, Samira Ait-El-Mkadem, Agnès Camuzat, Anne de Septenville, Sylvie Bannwarth, Emmanuelle C Genin, Valérie Serre, Gaëlle Augé, Alexis Brice, Jean Pouget, Véronique Paquis-Flucklinger
Mutations in the CHCHD10 gene have been recently identified in a large family with a complex phenotype variably associating frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS), cerebellar ataxia, myopathy, and hearing impairment. CHCHD10 encodes a protein located in the mitochondrial intermembrane space and is likely involved in mitochondrial genome stability and maintenance of cristae junctions. However, the exact contribution of CHCHD10 in FTD and ALS diseases spectrum remains unknown. In this study, we evaluated the frequency of CHCHD10 mutations in 115 patients with FTD and FTD-ALS phenotypes...
December 2014: Neurobiology of Aging
https://www.readbyqxmd.com/read/24934289/a-mitochondrial-origin-for-frontotemporal-dementia-and-amyotrophic-lateral-sclerosis-through-chchd10-involvement
#17
Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David G Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N'Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger
Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are extremely rare. We report a large family with a late-onset phenotype including motor neuron disease, cognitive decline resembling frontotemporal dementia, cerebellar ataxia and myopathy. In all patients, muscle biopsy showed ragged-red and cytochrome c oxidase-negative fibres with combined respiratory chain deficiency and abnormal assembly of complex V...
August 2014: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/22017425/high-cpg-island-methylator-phenotype-is-associated-with-lymph-node-metastasis-and-prognosis-in-gastric-cancer
#18
Hua-Yun Chen, Bao-He Zhu, Chang-Hua Zhang, Dong-Jie Yang, Jian-Jun Peng, Jian-Hui Chen, Fa-Keng Liu, Yu-Long He
Several studies have found that the promoter CpG island is frequently methylated in gastric cancer. The CpG island methylator phenotype (CIMP) defines concordant methylation of multiple promoter CpG island loci in a subset of gastric cancer. However, the relationship between CIMP and lymph node metastasis in gastric cancer is unknown. Our study aimed to characterize the role of CIMP in lymph node metastasis. Clinical specimens from 120 patients were analyzed and PCR was used to detect the methylation status of five genes (ALX4, TMEFF2, CHCHD10, IGFBP3, and NPR1)...
January 2012: Cancer Science
https://www.readbyqxmd.com/read/20888800/functional-annotation-of-heart-enriched-mitochondrial-genes-gbas-and-chchd10-through-guilt-by-association
#19
Ruben S R M Martherus, Willem Sluiter, Erika D J Timmer, Sabina J V VanHerle, Hubert J M Smeets, Torik A Y Ayoubi
Despite the mitochondria ubiquitous nature many of their components display divergences in their expression profile across different tissues. Using the bioinformatics-approach of guilt by association (GBA) we exploited these variations to predict the function of two so far poorly annotated genes: Coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10) and glioblastoma amplified sequence (GBAS). We predicted both genes to be involved in oxidative phosphorylation. Through in vitro experiments using gene-knockdown we could indeed confirm this and furthermore we asserted CHCHD10 to play a role in complex IV activity...
November 12, 2010: Biochemical and Biophysical Research Communications
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