Results 71 to 80 of about 210,000 (180)

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations [PDF]

, 2016
Mitochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphorylation disorder, with primary clinical manifestations of myopathic exercise intolerance and a macrocytic sideroblastic anemia.
Fix, DK, Fischel-Ghodsian, N, Patton, JR, Elkes, J, Lidov, HGW, Bykhovskaya, Y, Barlow, SC, Campagna, DR, Carson, JA, Hardee, JP, Schmidt, PJ, Mangum, JE, Altomare, D, Fleming, MD, Puppa, MJ, Sendamarai, AK   +15 more
core   +2 more sources

Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia

Clinical Case Reports, 2018
Key Clinical Message The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented.
Min Hee Kim, Sanjay Shah, Sylvia S. Bottomley, Niketa C. Shah   +3 more
doaj   +1 more source

Expanding genetic landscape of inherited bone marrow failure syndromes: Insights from the Canadian Inherited Marrow Failure Registry (CIMFR) (2001–2023)

British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.
Summary Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.
Ye Jee Shim, Jae Hee Lee, Talya Wittmann Dayagi, Robert J. Klaassen, Yves D. Pastore, Sharon Abish, MacGregor Steele, Catherine Corriveau‐Bourque, Vicky R. Breakey, Roona Sinha, Soumitra Tole, Lisa Goodyear, Josee Brossard, Stephanie Villeneuve, Bruce Crooks, Meera Rayar, Laura Wheaton, Sara Ogle, Michaela Cada, Hongbing Li, Rinu Mathew, Yigal Dror   +21 more
wiley   +1 more source

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

, 1995
The erythroid-specific isozyme of 5-aminolevulinate synthase (ALAS2), the first and ratelimiting enzyme of heme biosynthesis, is expressed concomitantly with the differentiation and maturation of the erythroid cell in order to accommodate generation of ...
Cox, T., Bishop, D., May, B., Bottomley, S., Cotter, P.   +4 more
core   +1 more source

Case of Mitochondrial Encephalomyopathy secondary to COVID-19 in a Pediatric case of SIFD syndrome with a novel TRNT1 mutation

Clinical Immunology Communications
Syndrome of Congenital Sideroblastic Anemia, B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD) is caused by mutations in the tRNA nucleotidyltransferase 1 (TRNT1) gene.
Amer Khojah, Lauren Gunderman, Ameera Bukhari, Aisha Mirza, Madeline Schutt, Aisha Ahmed   +5 more
doaj   +1 more source

Chelation therapy in children

Медицинский совет, 2016
Iron overload (RV) is a condition caused by excessive intake of iron, and in the absence of the specific mechanisms for its excretion - excessive accumulation in tissues and their subsequent lesion leading to functional organ failure [1].
M. V. Krasolnikova
doaj   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)

, 2020
Biallelic loss-of-function variants in the TRNT1 gene have been associated with a mitochondrial cytopathy impairing neuronal cell development and heme synthesis, named SIFD.
Rigante D, Giorgio V, Tornesello A, Zampino G, Leoni C, Onesimo R   +5 more
core   +1 more source

Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia

, 2003
The sideroblastic anemias are characterized by ring sideroblasts, that is, red cell precursors with mitochondrial iron accumulation. We therefore studied the expression of mitochondrial ferritin (MtF) in these conditions.
TRAVAGLINO E, BIASIOTTO, Giorgio, AROSIO, Paolo, CAZZOLA M, CORSI B, DRYSDALE J, INVERNIZZI R, BERGAMASCHI G, LEVI S, ROLANDI V   +9 more
core   +2 more sources