Results 41 to 50 of about 2,732 (148)

The enigmatic role of tafazzin in cardiolipin metabolism

, 2009
The mitochondrial phospholipid cardiolipin plays an important role in cellular metabolism as exemplified by its involvement in mitochondrial energy production and apoptosis.
Poll-The, Bwee Tien, Kulik, Willem, Houtkooper, Riekelt H., Morrone, Amelia, Turkenburg, Marjolein, Malvagia, Sabrina, Wanders, Ronald J., Karall, Daniela, Vaz, Frederic M., Perez-Cerda, Celia   +9 more
core   +1 more source

TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome [PDF]

, 2020
Tafazzin, which is encoded by the TAZ gene, catalyzes transacylation to form mature cardiolipin and shows preference for the transfer of a linoleic acid (LA) group from phosphatidylcholine (PC) to monolysocardiolipin (MLCL) with influence from ...
Ping, Peipei, Jaewoo Kim, Vladimir Guevara-Gonzalez, Peipei Ping, Anders O. Garlid, Garlid, Anders O, Guevara-Gonzalez, Vladimir, Kim, Jaewoo, Hirsh Bhatt, Calvin T. Schaffer, Schaffer, Calvin T, Bhatt, Hirsh   +11 more
core   +1 more source

Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome

PLoS ONE, 2023
Barth syndrome (BTHS) is an X-linked recessive genetic disorder due to mutations in the Tafazzin (TAFAZZIN) gene that lead to cardiac and skeletal muscle mitochondrial dysfunction.
George G. Schweitzer, Grace L. Ditzenberger, Curtis C. Hughey, Brian N. Finck, Michael R. Martino, Christina A. Pacak, Barry J. Byrne, William Todd Cade   +7 more
doaj  

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome

Frontiers in Pediatrics, 2023
BackgroundBarth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria.
Nicola Tovaglieri, Silvia Russo, Emanuele Micaglio, Angela Corcelli, Simona Lobasso   +4 more
doaj   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, Volume 46, Issue 11, Page 1703-1710, October 2026.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

Impaired Hepatic Glucose Metabolism Is Associated With Glucose Intolerance in Mice Carrying α2 Isoform Na,K‐ATPase Mutation

Acta Physiologica, Volume 242, Issue 10, October 2026.
ABSTRACT Aim The Na,K‐ATPase is important for energy demanding cellular processes, including essential components of substrate metabolism and metabolic flexibility. Mice heterozygous for the hemiplegic migraine‐related mutation, G301R, of the Na,K‐ATPase α2 isoform (α2+/G301R) demonstrated altered metabolism in the heart.
Christian Staehr, Tue Duy Nguyen, Tina Myhre Pedersen, Mikkel Vendelbo, Hans Christian Beck, Mads Kjolby, Rajkumar Rajanathan, Elena V. Bouzinova, Niels Jessen, Per Bendix Jeppesen, Alexander V. Chibalin, Vladimir V. Matchkov   +11 more
wiley   +1 more source

Characterizing the role of tafazzin in allergically activated mast cells [PDF]

, 2020
Introduction & Aim: Allergic inflammatory diseases are a constantly growing health concern in westernized societies. Mast cells, the driving force behind many allergic diseases, modulate various metabolic pathways to carry out their various functions ...
Maguire, Aindriu
core   +1 more source

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome

Journal of Lipid Research, 2006
Barth Syndrome (BTHS) is an X-linked recessive disorder that results in abnormal metabolism of the mitochondrial phospholipid cardiolipin (CL). CLs are decreased and monolysocardiolipins (MLCLs), intermediates in CL metabolism, are increased in a variety
Michiel Adriaan van Werkhoven, David Ross Thorburn, Agi Kyra Gedeon, James Jonathon Pitt   +3 more
doaj   +1 more source