Results 81 to 90 of about 2,315 (156)

A Novel Variant of CORO1A Gene Contributing to the Development of Primary Immunodeficiency in Children

Case Reports in Immunology, Volume 2026, Issue 1, 2026.
Introduction The case report describes a novel finding of a homozygous variant in the coronin 1A (CORO1A) gene, associated with atypical severe combined immunodeficiency (SCID) in a 9‐year‐old female patient with recurrent infections and unique immunological features, including periodic T‐cell lymphocytosis and T‐ and B‐cell lymphopenia.
Alanoud Aljohani, Yazeed Alayed, Bashayer Alrasheed, Hamza Alghamdi, Mofareh Alzahrani, Khalid Alshaigi, Xiancai Zhong   +6 more
wiley   +1 more source

Holding Out for a Model: Rhomboid Superfamily in Vertebrate Development and Disease

Journal of Cellular Physiology, Volume 240, Issue 9, September 2025.
ABSTRACT The rhomboid superfamily, comprising both proteases and pseudoproteases, has emerged as a central regulator of membrane biology, mediating diverse functions including protein quality control, signal transduction, trafficking, and more. While molecular mechanisms of rhomboid activity have been well‐characterized in invertebrate and cell‐based ...
Saroj Gourkanti, Yazmin Munoz, Jacqueline Cheung, Rosa M. Chavez, Devanshi Agarwal, Taylor J. Schoen, Kristina Solorio‐Kirpichyan, Sonya E. Neal   +7 more
wiley   +1 more source

Ferroptosis in Pneumoconiosis: From Molecular and Cellular Mechanisms to Therapeutic Strategies

Med Research, Volume 1, Issue 2, Page 239-256, September 2025.
Targeting lung various cells to alleviate pneumoconiosis by suppressing ferroptosis. AAV9‐HGF, adeno‐associated virus‐hepatocyte growth factor; DFP, deferiprone; DHQ, dihydroquercetin; Fer‐1, ferrostatin‐1; IL‐1β, interleukin‐1β; NMN, nicotinamide mononucleotide; sh‐SLC39A14, shRNA targeting solute carrier family 39 member 14; si‐OC‐STAMP, siRNA ...
Mengli Yan, Jing Zhang, Gaili Ji, Xiaobin Fang, Chunheng Mo   +4 more
wiley   +1 more source

Mitochondria as Regulators of Nonapoptotic Cell Death in Cancer

MedComm, Volume 6, Issue 8, August 2025.
Mitochondrial fission and fusion are key processes in maintaining cellular health. Fission is driven by proteins like, Fis‐1, which recruits DRP‐1, to facilitate the division of mitochondria. Fusion, however, is mediated by mitofusion 1(MFN1), mitofusion 2(MFN2), and optic atrophy 1 (OPA1), which work together to merge mitochondria, allowing functional
Saloni Malla, Rabin Neupane, Saloni Sood, Noor Hussein, Mariam Abou‐Dahech, David Terrero, Charles R. Ashby Jr., R. Jayachandra Babu, Amit K. Tiwari   +8 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, I‐Fen Cheng, Arpita Chowdhury, Katharina Wozny, Martina Balleininger, Robert Reinhold, Silke Grunau, Sylvie Callegari, Karl Toischer, Ronald JA Wanders, Gerd Hasenfuß, Britta Brügger, Kaomei Guan, Peter Rehling   +13 more
doaj   +1 more source

Cardiolipin biosynthesis and remodeling enzymes are altered during development of heart failure

Journal of Lipid Research, 2009
Cardiolipin (CL) is responsible for modulation of activities of various enzymes involved in oxidative phosphorylation. Although energy production decreases in heart failure (HF), regulation of cardiolipin during HF development is unknown.
Harjot K. Saini-Chohan, Michael G. Holmes, Adam J. Chicco, William A. Taylor, Russell L. Moore, Sylvia A. McCune, Diane L. Hickson-Bick, Grant M. Hatch, Genevieve C. Sparagna   +8 more
doaj   +1 more source

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

Tafazzin (TAZ) promotes the tumorigenicity of cervical cancer cells and inhibits apoptosis

PLOS ONE, 2017
Tafazzin (TAZ) is often aberrantly expressed in some cancers, including rectal cancer and thyroid neoplasms. However, the function of TAZ in cervical cancer cells remains unknown. This study aims to explore the expression and function of TAZ in cervical cancer cells.
Mei Chen, Yuan Zhang, Peng-Sheng Zheng
openaire   +4 more sources

Mitochondrial cardiolipin metabolism controlled by tafazzin enables ferroptosis

Abstract Mitochondria are important producers of reactive oxygen species, which are involved in triggering ferroptosis, a lipid peroxidation driven form of cell death. Paradoxically, in the rare inherited metabolic disease Barth Syndrome, we discovered a protection from erastin-induced ferroptosis, despite intrinsically elevated ...
Wohlfarter Y, Hagenbuchner J, Horzum U, Oemer G, Winter A, Seifert M, Schwärzler J, Kokot J, Hernansanz Agustín P, Juric V, Garcia Suoza LF, Talasz H, Enríquez Domínguez JA, Farhan H, Adolph TE, Weiss G, Zschocke J, Keller MA.   +17 more
europepmc   +2 more sources

Barth syndrome: mechanisms and management

The Application of Clinical Genetics, 2019
Josef FinstererKrankenanstalt Rudolfstiftung, Messerli Institute, Vienna, AustriaObjectives: Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial disorder, primarily affecting males, due to variants in TAZ encoding for the ...
Finsterer J
doaj