Cargando…

Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling

Barth syndrome (BTHS) is a rare X-linked genetic disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria. The presence and severity of clinical manifestations are highly variable in BTHS, even among patients with identical gene mutations. Currently, less than 2...

Descripción completa

Detalles Bibliográficos
Autores principales:	Raja, Vaishnavi, Reynolds, Christian A., Greenberg, Miriam L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482962/ https://www.ncbi.nlm.nih.gov/pubmed/31032491 http://dx.doi.org/10.29245/2572-9411/2017/2.1087

Ejemplares similares

Current Knowledge on the Role of Cardiolipin Remodeling in the Context of Lipid Oxidation and Barth Syndrome
por: Liang, Zhuqing, et al.
Publicado: (2022)

Loss of protein association causes cardiolipin degradation in Barth syndrome
por: Xu, Yang, et al.
Publicado: (2016)

Evaluation of cardiolipin nanodisks as lipid replacement therapy for Barth syndrome
por: Ikon, Nikita, et al.
Publicado: (2018)

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
por: Bowron, Ann, et al.
Publicado: (2014)

Blocking phosphatidylglycerol degradation in yeast defective in cardiolipin remodeling results in a new model of the Barth syndrome cellular phenotype
por: Káňovičová, Paulína, et al.
Publicado: (2021)

Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
por: Bowron, Ann, et al.
Publicado: (2015)

Treatment of Barth Syndrome by Cardiolipin Manipulation (CARDIOMAN) With Bezafibrate: Protocol for a Randomized Placebo-Controlled Pilot Trial Conducted in the Nationally Commissioned Barth Syndrome Service
por: Dabner, Lucy, et al.
Publicado: (2021)

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio
por: Vaz, Frédéric M., et al.
Publicado: (2021)

Correction for The Cardiolipin Transacylase, Tafazzin, Associates with Two Distinct Respiratory Components Providing Insight into Barth Syndrome
Publicado: (2012)

Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function
por: Sandlers, Yana, et al.
Publicado: (2016)

Tafazzin Mutation Affecting Cardiolipin Leads to Increased Mitochondrial Superoxide Anions and Mitophagy Inhibition in Barth Syndrome
por: Petit, Patrice X., et al.
Publicado: (2020)

Quality of life in Barth syndrome
por: Kim, Alexander Y., et al.
Publicado: (2022)

Barth syndrome
por: JEFFERIES, JOHN L
Publicado: (2013)

Barth syndrome
por: Clarke, Sarah LN, et al.
Publicado: (2013)

Cardiolipin deficiency in Barth syndrome is not associated with increased superoxide/H(2)O(2) production in heart and skeletal muscle mitochondria
por: Goncalves, Renata L. S., et al.
Publicado: (2020)

Barth syndrome mutations that cause tafazzin complex lability
por: Claypool, Steven M., et al.
Publicado: (2011)

Barth Syndrome: Psychosocial Impact and Quality of Life Assessment
por: Bath, Anandbir, et al.
Publicado: (2022)

Barthes
por: Culler, Jonathan D.
Publicado: (1987)

Barth syndrome: mechanisms and management
por: Finsterer, Josef
Publicado: (2019)

Barth Syndrome Cardiomyopathy: An Update
por: Pang, Jing, et al.
Publicado: (2022)

Metabolic Alterations Caused by Defective Cardiolipin Remodeling in Inherited Cardiomyopathies
por: Wasmus, Christina, et al.
Publicado: (2020)

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
por: Steward, C G, et al.
Publicado: (2010)

Case report of Barth syndrome: a forgotten cause of cardiomyopathy
por: Rao, Shiavax, et al.
Publicado: (2021)

A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism
por: Reid Thompson, W., et al.
Publicado: (2020)

COmplexome Profiling ALignment (COPAL) reveals remodeling of mitochondrial protein complexes in Barth syndrome
por: Van Strien, Joeri, et al.
Publicado: (2019)

The Role of Cardiolipin in Cardiovascular Health
por: Shen, Zheni, et al.
Publicado: (2015)

Introducing Barthes /
por: Thody, Philip Malcolm Waller, 1928-
Publicado: (1999)

Assessing olfactory functions in patients with Barth syndrome
por: Dibattista, Michele, et al.
Publicado: (2017)

New clinical and molecular insights on Barth syndrome
por: Ferri, Lorenzo, et al.
Publicado: (2013)

Barth syndrome cardiomyopathy: targeting the mitochondria with elamipretide
por: Sabbah, Hani N.
Publicado: (2020)

Myocardial disturbances of intermediary metabolism in Barth syndrome
por: Greenwell, Amanda A., et al.
Publicado: (2022)

Barthes para principiantes /
por: Thody, Philip Malcolm Waller, 1928-
Publicado: (1997)

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome
por: Dudek, Jan, et al.
Publicado: (2015)

Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach
por: Reynolds, Stacey
Publicado: (2015)

Oeuvres choisies de Barthe.
por: Barthe, Nicolas-Thomas (1736-1785)
Publicado: (1811)

Roland Barthes, 1915-1980 /
por: Calvet, Louis Jean, 1942-
Publicado: (1992)

Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain
por: Hijikata, Atsushi, et al.
Publicado: (2015)

Barthes en ensayo : introducción al texto reflexionante /
por: Bensmaïa, Réda
Publicado: (2017)

Selective remodeling of cardiolipin fatty acids in the aged rat heart
por: Lee, Ho-Joo, et al.
Publicado: (2006)

Sex-specific cardiac cardiolipin remodelling after doxorubicin treatment
por: Moulin, Maryline, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_51bf2aoggfepv6egumkpr6ac1u