Results 71 to 80 of about 1,298,581 (123)

Philoikos zur Beförderung häuslicher Tugend und Glückseligkeit

open access: yes
Autopsie nach Exemplar der ULB Sachsen-AnhaltVorlageform des Erscheinungsvermerks: Leipzig, bei Johann Ambrosius Barth ...
Pischon, Johann Karl
core   +1 more source

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

open access: yesBalkan Journal of Medical Genetics, 2016
Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of ...
Bakšienė M   +5 more
doaj   +1 more source

Emerging roles of pyruvate dehydrogenase phosphatase 1: a key player in metabolic health

open access: yesFrontiers in Physiology
Pyruvate dehydrogenase phosphatase (PDP), a structurally conserved member of the protein phosphatase C family (PP2C) of proteins, is a key regulatory enzyme responsible for reactivation of the mitochondrial gate-keeper, pyruvate dehydrogenase (PDH ...
Vikalp Kumar, Miriam L. Greenberg
doaj   +1 more source

Practisches lateinisches Lesebuch

open access: yes
Autopsie nach Ex. der ULB Sachsen-AnhaltVorlageform des Erscheinungsvermerks: Leipzig, bey Johann Ambrosius Barth, 1795.Text teilw.
Meinecke, Albert Christian
core   +1 more source

George Barth, Faculty Recital, March 11, 1987 [PDF]

open access: yes, 1987
Concert program for George Barth, Faculty Recital, March 11 ...

core  

Bezafibrate as treatment in males for Barth syndrome: CARDIOMAN, a double-blind, placebo-controlled crossover RCT

open access: yesEfficacy and Mechanism Evaluation
Background Barth syndrome is a rare, life-threatening X-linked recessive mitochondrial disorder of lipid metabolism primarily affecting males. Previous research suggests that bezafibrate may ameliorate cellular lipid abnormalities and reduce cardiac ...
Guido Pieles   +22 more
doaj   +1 more source

Kleiner Katechismus

open access: yes
Mit Titelvignette (Portr., Holzschn.)Vorlageform des Erscheinungsvermerks: Leipzig, 1828.
Luther, Martin
core   +1 more source

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome

open access: yesFrontiers in Cardiovascular Medicine
BackgroundBarth syndrome is an X-linked disorder characterised by cardiomyopathy, growth abnormalities, neutropenia, and 3-methylglutaconic aciduria. It is caused by pathogenic variants in TAFAZZIN, which encodes a mitochondrial protein essential for ...
Emma S. Singer   +18 more
doaj   +1 more source

Role of Cardiolipin in Mitochondrial Signaling Pathways

open access: yesFrontiers in Cell and Developmental Biology, 2017
The phospholipid cardiolipin (CL) is an essential constituent of mitochondrial membranes and plays a role in many mitochondrial processes, including respiration and energy conversion.
Jan Dudek
doaj   +1 more source

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