Results 121 to 130 of about 3,006,865 (307)

Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study

Journal of Biochemical and Clinical Genetics
Background: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare inborn error of valine catabolism associated with progressive neurological impairment.
Emtithal Al jishi, Zahra Al sahlawi, Huda Omran, Mohammed S. Almaliki, Faten Al mahroos, Heba Alkoheji   +5 more
doaj   +1 more source

Genetic Deficiency of the Long Pentraxin 3 Affects Osteogenesis and Osteoclastogenesis in Homeostatic and Inflammatory Conditions. [PDF]

Int J Mol Sci, 2023
Granata V, Strina D, Schiavone ML, Bottazzi B, Mantovani A, Inforzato A, Sobacchi C.   +6 more
europepmc   +1 more source

Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential

FEBS Letters, EarlyView.
Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta, Hari Baskar Balasubramanian, Amir Pasokh, Marietta Zille   +3 more
wiley   +1 more source

Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency

, 2007
Mevalonate kinase deficiency is a rare inborn disorder of isoprenoid and sterol biosynthesis characterized by a recurrent autoinflammatory syndrome and, in most severe cases, psychomotor delay.
Nevyjel, Marco, Waterham, Hans R., Barbi, Egidio, Pontillo, Alessandra, Tommasini, Alberto, Marilena Granzotto, Granzotto, Marilena, Alessandra Pontillo, Andrea D'Osualdo, Egidio Barbi, Lorenzo Calligaris, Alberto Tommasini, Sergio Crovella, D'Osualdo, Andrea, Alessandro Ventura, Calligaris, Lorenzo, Crovella, Sergio, Ventura, Alessandro, Marco Nevyjel, Hans R. Waterham   +19 more
core   +1 more source

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

FEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang, Ruslana Romaniuk, Hristo L. Svilenov   +2 more
wiley   +1 more source

Ectopic Rod Photoreceptor Development in Mice with Genetic Deficiency of WNT2B. [PDF]

Cells, 2023
Blomfield AK, Maurya M, Bora K, Pavlovich MC, Yemanyi F, Huang S, Fu Z, O'Connell AE, Chen J.   +8 more
europepmc   +1 more source

Liver organoids: modelling complexity in homeostasis and disease

FEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

Molecular Genetics and Metabolism Reports
Background and aims: Primary Coenzyme Q (CoQ) deficiency caused by COQ4 defects is a clinically heterogeneous mitochondrial condition characterized by reduced levels of CoQ10 in tissues. Next-generation sequencing has lately boosted the genetic diagnosis
María Alcázar-Fabra, Elsebet Østergaard, Daniel J.M. Fernández-Ayala, María Andrea Desbats, Valeria Morbidoni, Laura Tomás-Gallado, Laura García-Corzo, María del Mar Blanquer-Roselló, Abigail K. Bartlett, Ana Sánchez-Cuesta, Lucía Sena, Ana Cortés-Rodríguez, María Victoria Cascajo-Almenara, David J. Pagliarini, Eva Trevisson, Sabine W. Gronborg, Gloria Brea-Calvo   +16 more
doaj   +1 more source

A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome

Background: Hexokinase (HK) deficiency is a rare autosomal recessively inherited disease manifested by chronic nonspherocytic hemolytic anemia.
Beata Burzyńska, Magdalena Bartnik, Konrad Wasilewski, Weronika Pawlik, Elżbieta Kamieńska, Tomasz Urasiński   +5 more
core   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source