Cells, 2020 Tafazzin is a phospholipid transacylase that catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for oxidative phosphorylation.
Patrice X. Petit +3 more
doaj +1 more source
Barth syndrome in an adult patient: an overview of the problem and case report. A review [PDF]
Терапевтический архивBarth 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 +8 more
doaj +1 more source
PLoS ONE, 2023 Barth Syndrome is a rare, X-linked disorder caused by mutation of the gene TAFAZZIN (TAZ). The corresponding Tafazzin protein is involved in the remodeling of cardiolipin, a phospholipid with critical roles in mitochondrial function.
Kristin Richardson, Robert Wessells
doaj +1 more source
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 +27 more
core +1 more source
Salivary testosterone measurement in women with and without polycystic ovary syndrome [PDF]
, 2017 Clinical and/or biochemical hyperandrogenism is one of the diagnostic criteria for PCOS. An evaluation of the role of salivary testosterone (salT) and androstenedione (salA) for the diagnosis of PCOS was undertaken in a cross sectional study involving 65
Adaway, Joanne +9 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 +3 more
openaire +2 more sources
The metabolic inter-relationships between changes in waist circumference, triglycerides, insulin sensitivity and small, dense low-density lipoprotein particles with acute weight loss in clinically obese children and adolescents. [PDF]
, 2013 OBJECTIVE: Small, dense low-density lipoprotein (LDL) particles are highly atherogenic and strongly associated with obesity-related dyslipidemia. The metabolic inter-relationships between weight loss induced changes in waist circumference, triglycerides,
Albers +30 more
core +1 more source
A rare clinical association: Barth syndrome and cystic fibrosis
The Turkish Journal of Pediatrics, 2019 Barth syndrome (BS) is a rare X-linked recessive metabolic disorder characterized by cardiomyopathy, hypotonia, neutropenia, growth retardation and 3-methylglutaconic aciduria type II.
Elif Sağ +3 more
doaj +1 more source
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
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 +6 more
core +1 more source