Results 41 to 50 of about 1,622,122 (202)
Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy [PDF]
Lipids, 2017 Abstract The Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mitochondrial membrane phospholipids, lactic acidosis, organic acid‐uria, skeletal muscle weakness and cardiomyopathy. The underlying cause of BTHS has been definitively
Nikita, Ikon, Robert O, Ryan
openaire +2 more sources
Evidence for functional convergence between LZTS2 and DYRK1A during craniofacial development
Developmental Dynamics, EarlyView.Abstract Background Precise control of DYRK1A dosage is essential for embryonic development, including craniofacial morphogenesis. While LZTS2 is among the most consistently identified DYRK1A‐interacting proteins, its roles in embryonic development remain incompletely understood, and its potential contribution to craniofacial development has not been ...
Nicole Cheng +3 more
wiley +1 more source
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 +15 more
wiley +1 more source
Counselling and Psychotherapy Research, Volume 26, Issue 4, December 2026.ABSTRACT Objectives This study is among the first to assess the efficacy of teletherapy‐delivered Transdiagnostic Emotion‐Focused Therapy (EFT‐T) for university students with depression and anxiety symptoms. Methods Therapy was offered in a 12–16 session format. Forty students with depression and anxiety symptoms (diagnosed using the Mini‐International
Petr Mikoška +6 more
wiley +1 more source
Phosphatidylglycerol Supplementation Alters Mitochondrial Morphology and Cardiolipin Composition
Membranes, 2022 The pathogenic variant of the TAZ gene is directly associated with Barth syndrome. Because tafazzin in the mitochondria is responsible for cardiolipin (CL) remodeling, all molecules related to the metabolism of CL can affect or be affected by TAZ ...
I Chu +6 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males.
Aidan Searle +5 more
doaj +1 more source
HemaSphere, Volume 10, Issue 11, November 2026.Abstract DNA hypomethylating agents (HMAs) such as 5‐azacytidine (5‐AZA) are a cornerstone in the treatment of acute myeloid leukemia (AML), but development of resistance represents a major clinical challenge. Apart from epigenetic reprogramming of malignant cell clones, therapy with HMA is increasingly recognized to facilitate antineoplastic immunity,
Nadia El Khawanky +20 more
wiley +1 more source
Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome
EMBO Molecular Medicine, 2015 Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek +13 more
doaj +1 more source
Psychosocial Functioning in Youth With Barth Syndrome [PDF]
Children's Health Care, 2009 This pilot study assessed the quality of life and psychosocial functioning of pediatric patients with Barth Syndrome. Thirty-four boys with Barth Syndrome and 22 healthy male controls were administered a measure of verbal ability and completed measures of quality of life, loneliness, perceived peer support, and sibling relationship quality.
Eric A, Storch +7 more
openaire +2 more sources
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 +3 more
wiley +1 more source