Results 81 to 90 of about 809 (138)

A novel "TAZ" gene mutation and mosaicism in a Polish family with Barth syndrome [PDF]

, 2015
Barth syndrome (BTHS) is an X‐linked recessive disease primarily affecting males. Clinically, the disease is characterized by hypertrophic or dilated cardiomyopathy, skeletal myopathy, chronic/cyclic neutropenia, 3‐methylglutaconic aciduria, growth ...
Płatek, Teresa, Wybrańska, Iwona, Zapała, Barbara   +2 more
core   +2 more sources

Identification of a Novel Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome

Journal of Inborn Errors of Metabolism and Screening, 2015
Mutations in the tafazzin ( TAZ ) gene on chromosome Xq28 are responsible for the Barth syndrome (BTHS) phenotype resulting in a loss of function in the protein tafazzin involved in the transacylation of cardiolipin, an essential mitochondrial ...
Minal Borkar PhD, Sunita Bijarnia-Mahay DCH, DNB, MD, Sudha Kohli PhD, Monica Juneja MD, Yogesh Srivastava M.Sc, Renu Saxena PhD, Ishwar C. Verma FRCP   +6 more
doaj   +1 more source

COmplexome Profiling ALignment (COPAL) reveals remodeling of mitochondrial protein complexes in Barth syndrome [PDF]

, 2019
Item does not contain fulltextMOTIVATION: Complexome profiling combines native gel electrophoresis with mass spectrometry to obtain the inventory, composition and abundance of multiprotein assemblies in an organelle.
Brandt, U., Chatzispyrou, I.A., Guerrero Castillo, S., Houtkooper, R.H., Huijnen, M.A., Strien, J.P.M. van   +5 more
core   +1 more source

Barth syndrome (BTHS) – report case [PDF]

Child Neurology, 2015
Joanna Pelc, Elżbieta Czyżyk, Szymon Figurski   +2 more
openaire   +1 more source

Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study

Orphanet Journal of Rare Diseases, 2019
Background Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles,
Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers, Alan L. Shields   +7 more
doaj   +1 more source

Functional and morphological adaptations in tafazzin-deficient pancreatic islets in the context of Barth syndrome [PDF]

Das Barth Syndrom (BTHS) ist eine X-chromosomale Multisystem Erkrankung, die durch Mutationen in dem Gen verursacht wird, das für das mitochondriale Enzym Tafazzin (Taz) kodiert.
Carlein, Christopher
core   +1 more source

Cardiolipin, Mitochondria, and Neurological Disease [PDF]

, 2021
Over the past decade, it has become clear that lipid homeostasis is central to cellular metabolism. Lipids are particularly abundant in the central nervous system (CNS) where they modulate membrane fluidity, electric signal transduction, and synaptic ...
Claypool, SM, Falabella, M, Hanna, MG, Pitceathly, RDS, Vernon, HJ   +4 more
core  

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome

Orphanet Journal of Rare Diseases, 2019
Background Barth syndrome (BTHS) is an X-linked disorder caused by defects in TAZ with key clinical features including cardiomyopathy, neutropenia and skeletal myopathy.
Brittany Hornby, Rebecca McClellan, Lucy Buckley, Kimberley Carson, Tiffany Gooding, Hilary J. Vernon   +5 more
doaj   +1 more source

atrophy plus syndrome, or costeff optic atrophy syndrome): identification of the OPA3 gene and its [PDF]

deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria, ” J Inherit Metab ...
Abnormal Mitochondria, Arbelaez A, Castillo M, X-linked Carioskelatal Myopathy   +3 more
core  

Chronic Exercise And The Treatment Of Progressive Disorders [PDF]

, 2023
Exercise is a known, beneficial treatment for a variety of normal (aging) and abnormal (disease) declines in health. These benefits can be observed in a range of tissues, including the brain and muscle, and organelles, such as the mitochondria.
Richardson, Kristin Ann
core   +1 more source