Results 51 to 60 of about 41,331 (231)

A Barth Syndrome Patient-Derived D75H Point Mutation in TAFAZZIN Drives Progressive Cardiomyopathy in Mice. [PDF]

Int J Mol Sci
Snider PL, Sierra Potchanant EA, Sun Z, Edwards DM, Chan KK, Matias C, Awata J, Sheth A, Pride PM, Payne RM, Rubart M, Brault JJ, Chin MT, Nalepa G, Conway SJ.   +14 more
europepmc   +2 more sources

Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies [PDF]

, 2015
Studying monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease. Here, we combine patient-derived and genetically engineered iPSCs with tissue engineering to elucidate the pathophysiology ...
Agarwal, Ashutosh, Chen, Jinghai, Chien, Kenneth R., Church, George M., Ding, Jian, Geva, Judith, He, Aibin, Jiang, Dawei, Kelley, Richard I., Kulik, Wim, Laflamme, Michael A., Li, Kai, Ma, Qing, McCain, Megan L., Murry, Charles E., Parker, Kevin Kit, Pasqualini, Francesco Silvio, Pu, William T., Roberts, Amy E., Vaz, Frédéric M., Wanders, Ronald J. A., Wang, Da-zhi, Wang, Gang, Wang, Jiwu, Yang, Luhan, Yuan, Hongyan, Zangi, Lior, Zhang, Donghui   +27 more
core   +1 more source

Barth syndrome in an adult patient: an overview of the problem and case report. A review [PDF]

Терапевтический архив
Barth syndrome is a rare genetic disease caused by abnormal cardiolipin metabolism, characterized by high mortality within 5 years of diagnosis due to heart failure and/or infectious complications.
Marina D. Muksinova, Yulia F. Osmolovskaya, Irina V. Leontyeva, Mareta A. Galaeva, Olga V. Stukalova, Allan G. Beniashvili, Alfiya A. Safiullina, Igor V. Zhirov, Sergey N. Tereshchenko   +8 more
doaj   +1 more source

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Mitochondrial dysfunctions in barth syndrome [PDF]

IUBMB Life, 2019
ABSTRACTBarth syndrome (BTHS) is a rare multisystemic genetic disorder caused by mutations in the TAZ gene. TAZ encodes a mitochondrial enzyme that remodels the acyl chain composition of newly synthesized cardiolipin, a phospholipid unique to mitochondrial membranes.
Sagnika Ghosh, Donna M. Iadarola, Writoban Basu Ball, Vishal M. Gohil   +3 more
openaire   +2 more sources

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]

, 2010
Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O, Freisinger, P, Hansikova, H, Honzik, T, Houstek, J, Huemer, M, Jesina, P, Kmoch, S, Koch, J, Kostkova, O, Magner, M, Mayr, JA, Sperl, W, Tesarova, M, Van Coster, Rudy, Zeman, J   +15 more
core   +2 more sources

The Clinical Features of Paranoia in the 20th Century and Their Representation in Diagnostic Criteria From DSM-III Through DSM-5 [PDF]

, 2016
This review traces, through psychiatric textbooks, the history of the Kraepelinian concept of paranoia in the 20th century and then relates the common reported symptoms and signs to the diagnostic criteria for paranoia/delusional disorder in DSM-III ...
Kendler, Kenneth S.
core   +2 more sources

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

JMIR Research Protocols, 2021
BackgroundBarth syndrome is a rare, life-threatening, X-linked recessive genetic disease that predominantly affects young males and is caused by abnormal mitochondrial lipid metabolism. Currently, there is no definitive treatment for Barth syndrome other
Dabner, Lucy, Pieles, Guido E, Steward, Colin G, Hamilton-Shield, Julian P, Ness, Andrew R, Rogers, Chris A, Bucciarelli-Ducci, Chiara, Greenwood, Rosemary, Ellis, Lucy, Sheehan, Karen, Reeves, Barnaby C   +10 more
doaj   +1 more source

Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome[S]

Journal of Lipid Research, 2013
Barth syndrome is a complex metabolic disorder caused by mutations in the mitochondrial transacylase tafazzin. Recently, an inducible tafazzin shRNA knockdown mouse model was generated to deconvolute the complex bioenergetic phenotype of this disease. To
Michael A. Kiebish, Kui Yang, Xinping Liu, David J. Mancuso, Shaoping Guan, Zhongdan Zhao, Harold F. Sims, Rebekah Cerqua, W. Todd Cade, Xianlin Han, Richard W. Gross   +10 more
doaj   +1 more source

Defective Mitochondrial Cardiolipin Remodeling Dampens HIF-1α Expression in Hypoxia

Cell Reports, 2018
Summary: Mitochondria fulfill vital metabolic functions and act as crucial cellular signaling hubs, integrating their metabolic status into the cellular context.
Arpita Chowdhury, Abhishek Aich, Gaurav Jain, Katharina Wozny, Christian Lüchtenborg, Magnus Hartmann, Olaf Bernhard, Martina Balleiniger, Ezzaldin Ahmed Alfar, Anke Zieseniss, Karl Toischer, Kaomei Guan, Silvio O. Rizzoli, Britta Brügger, Andrè Fischer, Dörthe M. Katschinski, Peter Rehling, Jan Dudek   +17 more
doaj   +1 more source