Results 61 to 70 of about 2,741 (176)

A new murine model of Barth Syndrome neutropenia links TAFAZZIN deficiency to increased ER stress induced apoptosis.

, 2022
Barth syndrome is an inherited X-linked disorder that leads to cardiomyopathy, skeletal myopathy and neutropenia. These symptoms result from the loss of function of the enzyme TAFAZZIN, a transacylase located in the inner mitochondrial membrane that is ...
Pu, William T, Keene, Douglas R, Sykes, David Brian, Milosevic, Jelena, Wang, Suya, Aziz, Najihah, Cetinbas, Murat, Sohn, Jihee, Brouse, Thomas, Sadreyev, Ruslan, Hauschild, Alexander, Elkhoury, Jenna, van Gastel, Nick, Tufa, Sara F   +13 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  

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

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

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

Role of Tafazzin in Hematopoiesis and Leukemogenesis [PDF]

, 2020
Tafazzin (TAZ) is a mitochondrial transacylase that remodels the mitochondrial cardiolipin into its mature form. Through a CRISPR screen, we identified TAZ as necessary for the growth and viability of acute myeloid leukemia (AML) cells.
Seneviratne, Ayesh Kumar
core   +2 more sources

Mitochondrial membrane remodeling in stress adaptation: Lipid control of organelle quality

Protein Science, Volume 35, Issue 8, August 2026.
Abstract Mitochondria respond to proteotoxic stress through the mitochondrial unfolded protein response, traditionally viewed as a transcriptional program that restores proteostasis by inducing chaperones and proteases. Emerging evidence indicates that mitochondrial membrane remodeling constitutes an additional adaptive component of this response ...
Lena J. Reichert, F.‐Nora Vögtle, Carlotta Peselj   +2 more
wiley   +1 more source

YAP‐activated lymph node fibroblasts contribute to extracellular matrix remodeling associated with extranodal extension of oral squamous cell carcinoma

The Journal of Pathology: Clinical Research, Volume 12, Issue 4, July 2026.
Abstract Desmoplasia, characterized by excessive expansion of cancer‐associated fibroblasts (CAFs) and aberrant extracellular matrix (ECM) deposition, is widely present especially in invasive cancers. The extranodal extension (ENE) of nodal metastasis involves the extension of invasive tumor cells through the lymph node capsule into the perinodal ...
Qian Zhang, Shanben Jiang, Ansardin Abliz, Sheng Chen, Qingang Hu, Liang Ding, Yuxin Wang   +6 more
wiley   +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

Genotype–Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Abubakar Nazir, Atif Hussain Sarwar, Rameen Nazar, Sarim Hassan Shahab, Sumera Manan, Hafsa Rafique, Ahsan Talal Khan, Abdalhakim Shubietah, Syed Rafay Hussain Zaidi, Behram Khan   +9 more
wiley   +1 more source