Current genetic medicine reports最新文献_第9页

Metabolic Dysregulation in Amyotrophic Lateral Sclerosis: Challenges and Opportunities. 肌萎缩性侧索硬化症代谢失调:挑战与机遇。

Current genetic medicine reports Pub Date : 2017-06-01 Epub Date: 2017-04-28 DOI: 10.1007/s40142-017-0123-8

Archi Joardar, Ernesto Manzo, Daniela C Zarnescu

{"title":"Metabolic Dysregulation in Amyotrophic Lateral Sclerosis: Challenges and Opportunities.","authors":"Archi Joardar, Ernesto Manzo, Daniela C Zarnescu","doi":"10.1007/s40142-017-0123-8","DOIUrl":"https://doi.org/10.1007/s40142-017-0123-8","url":null,"abstract":"Purpose of review: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease for which there is no cure and treatments are at best palliative. Several genes have been linked to ALS, which highlight defects in multiple cellular processes including RNA processing, proteostasis and metabolism. Clinical observations have identified glucose intolerance and dyslipidemia as key features of ALS however the causes of these metabolic alterations remain elusive.Recent findings: Recent studies reveal that motor neurons and muscle cells may undergo cell type specific metabolic changes that lead to utilization of alternate fuels. For example, ALS patients' muscles exhibit reduced glycolysis and increased reliance on fatty acids. In contrast, ALS motor neurons contain damaged mitochondria and exhibit impaired lipid beta oxidation, potentially leading to increased glycolysis as a compensatory mechanism.Summary: These findings highlight the complexities of metabolic alterations in ALS and provide new opportunities for designing therapeutic strategies based on restoring cellular energetics.","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 2","pages":"108-114"},"PeriodicalIF":0.0,"publicationDate":"2017-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0123-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35629830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 22

Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition 囊性纤维化的诊断和治疗:一种(不那么)简单的隐性疾病

IF 2.1

Current genetic medicine reports Pub Date : 2017-05-20 DOI: 10.1007/s40142-017-0122-9

K. Raraigh, M. Pastore, L. Greene, B. Karczeski, L. K. Fisher, B. Ramsey, E. Langfelder-Schwind

引用次数: 1

Genetic Counseling in Von Hippel-Lindau Disease: Navigating the Landscape of a Well-Established Syndrome 遗传咨询在冯希佩尔-林道病:导航景观一个公认的综合征

IF 2.1

Current genetic medicine reports Pub Date : 2017-05-04 DOI: 10.1007/s40142-017-0119-4

G. Chan-Smutko

引用次数: 0

Germline Mutations Associated with Leukemia in Childhood: New Discoveries and Emerging Phenotypes 与儿童白血病相关的生殖系突变:新发现和新出现的表型

IF 2.1

Current genetic medicine reports Pub Date : 2017-05-02 DOI: 10.1007/s40142-017-0118-5

Sarah Bannon, Jessica Foglesong, C. Dinardo

引用次数: 4

Prenatal Diagnostic Exome Sequencing: a Review 产前诊断外显子组测序:综述

IF 2.1

Current genetic medicine reports Pub Date : 2017-05-02 DOI: 10.1007/s40142-017-0120-y

L. Westerfield, Alicia A. Braxton, M. Walkiewicz

引用次数: 2

Benefits and Challenges of Telemedicine: the JScreen Program Experience 远程医疗的好处和挑战:JScreen项目经验

IF 2.1

Current genetic medicine reports Pub Date : 2017-04-27 DOI: 10.1007/s40142-017-0121-x

M. Hardy, K. Grinzaid

引用次数: 3

Erratum to: Genetics of Lipid and Lipoprotein Disorders and Traits 《脂质和脂蛋白紊乱和性状的遗传学》的勘误

IF 2.1

Current genetic medicine reports Pub Date : 2017-03-21 DOI: 10.1007/s40142-017-0117-6

J. Dron, R. Hegele

引用次数: 1

Counseling At-Risk Parkinson’s Disease Cohorts: Integrating Emerging Evidence 帕金森病高危人群咨询：整合新出现的证据

IF 2.1

Current genetic medicine reports Pub Date : 2017-03-11 DOI: 10.1007/s40142-017-0116-7

Leonard L. Sokol, Michael J. Young, J. Jankovic

引用次数: 7

Genetic and Evolutionary Contributions to the Etiology of Attention Deficit Hyperactivity Disorder 遗传和进化对注意缺陷多动障碍病因的贡献

IF 2.1

Current genetic medicine reports Pub Date : 2017-03-02 DOI: 10.1007/s40142-017-0114-9

G. Puddu, P. Rothhammer, F. Rothhammer

引用次数: 1

Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome. 转录因子4在皮特·霍普金斯综合征中的分子机制。

Current genetic medicine reports Pub Date : 2017-03-01 Epub Date: 2017-02-11 DOI: 10.1007/s40142-017-0110-0

Matthew D Rannals, Brady J Maher

{"title":"Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome.","authors":"Matthew D Rannals, Brady J Maher","doi":"10.1007/s40142-017-0110-0","DOIUrl":"https://doi.org/10.1007/s40142-017-0110-0","url":null,"abstract":"Purpose of review: Pitt Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder that results from mutations of the clinically pleiotropic Transcription Factor 4 (TCF4) gene. Mutations in the genomic locus of TCF4 on chromosome 18 have been linked to multiple disorders including 18q syndrome, schizophrenia, Fuch's corneal dystrophy, and sclerosing cholangitis. For PTHS, TCF4 mutation or deletion leads to the production of a dominant negative TCF4 protein and/or haploinsufficiency that results in abnormal brain development. The biology of TCF4 has been studied for several years in regards to its role in immune cell differentiation, although its role in neurodevelopment and the mechanisms resulting in the severe symptoms of PTHS are not well studied.Recent findings: Here, we summarize the current understanding of PTHS and recent findings that have begun to describe the biological implications of TCF4 deficiency during brain development and into adulthood. In particular, we focus on recent work that has looked at the role of TCF4 biology within the context of PTHS and highlight the potential for identification of therapeutic targets for PTHS.Summary: PTHS research continues to uncover mutations in TCF4 that underlie the genetic cause of this rare disease, and emerging evidence for molecular mechanisms that TCF4 regulates in brain development and neuronal function is contributing to a more complete picture of how pathology arises from this genetic basis, with important implications for the potential of future clinical care.","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"5 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-017-0110-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36566718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 7