Results 71 to 80 of about 10,064 (198)

Maternal protein restriction programs the ageing kidney: Proteomic signatures of early‐life origin renal and metabolic dysfunction

The Journal of Physiology, EarlyView.
Abstract figure legend Maternal protein restriction (MPR) induced persistent renal histopathological alterations accompanied by elevated serum creatinine levels. Nephron‐segment proteomic analysis revealed region‐specific molecular dysregulation affecting Bowman's capsule (PARK7, oxidative stress sensor; MSN, cytoskeletal organization), the proximal ...
Marina Pereira Pires, Matheus Naia Fioretto, Marcel Rodrigues Ferreira, Isabelle Tenori Ribeiro, Luísa Annibal Barata, Flávia Alessandra Maciel, Lucas Sobrinho Lemos, Renato Mattos, Luiz Marcos Frediane Portela, Patrick Vieira de Souza, Luisa Correia Gomes, Gustavo Monezzi Cordeiro, Wellerson Rodrigo Scarano, Patrícia Aline Boer, Jose Antonio Rocha Gontijo, Luis Antonio Justulin   +15 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Nucleases and Their Inhibitors: Exploring Biological Roles, Industrial Applications, and Challenges in Heterologous Expression

Biotechnology Journal, Volume 21, Issue 9, September 2026.
Graphical Abstract and Lay Summary Intracellular nucleases, depicted as blue circles in a nucleosome, hydrolyze phosphodiester bonds, repair damaged DNA using DNA base excision repair (BER), mismatch repair (MMR), and homologous recombination (HR), and are involved in DNA replication.
Wian Vermeulen, Anton Du Preez van Staden, Leon M. T. Dicks   +2 more
wiley   +1 more source

Baat‐Deficient Mice Recapitulate Elevated 7α‐Hydroxy‐3‐Oxo‐4‐Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACTBile acid Coenzyme A: amino acid N‐acyltransferase (BAAT) catalyzes the conjugation of bile acids with taurine or glycine, a process essential for bile acid solubility and intestinal lipid absorption. Mutations in BAAT cause an inborn error of bile acid metabolism, typically characterized by reduced conjugated bile acids and fat‐soluble vitamin
Soma Koga, Hajime Takei, Ryutaro Tamura, Yugo Takaki, Hiroyuki Kusuhara, Hiroshi Nittono, Hisamitsu Hayashi   +6 more
wiley   +1 more source

Correction: Mothers’ lived experience of caring for children with inborn errors of amino acid metabolism

BMC Pediatrics, 2023
Sara Shirdelzade, Monir Ramezani, Peyman Eshraghi, Abbas Heydari   +3 more
doaj   +1 more source

From Single Cells to Diagnosis: Proteomics Technologies in the Multi‐Omics Landscape of Rare and Mitochondrial Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Wetzel et al. outline how individual omics methods contribute to the diagnosis of patients with rare, and particularly mitochondrial diseases, with a focus on how spatial proteomics is joining this multi‐omics stack. ABSTRACT Proteomics by mass spectrometry has rapidly matured from a niche method into a standard tool.
Simon Wetzel, Sebastian Porsdam Mann, Florian A. Rosenberger   +2 more
wiley   +1 more source

Profile of inborn errors of metabolism among the neonates admitted in special newborn care unit of a tertiary care hospital

Asian Journal of Medical Sciences
Background: Inborn errors of metabolism (IEM) refer to a group of hereditary disorders that occur due to the disruption of normal biochemical processes in the body. Although the incidence of IEM is rare, together their incidence is more than 1:1000.1 IEM
Kushal Mandal , Sushama Sahoo , Sarbani Misra , Bharat Lal Kisku   +3 more
doaj   +1 more source

Hormonal Responses to a Short Daytime Fast in Children With Beta‐Oxidation Disorders

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Fasting‐induced cellular energy deficiency and hypoglycemia are well‐known complications of beta‐oxidation disorders. The changes in energy homeostasis during fasting are under hormonal regulation. This aspect of fasting metabolism in beta‐oxidation disorders is not fully characterized.
David Olsson, Maria Halldin, Charlotte Bieneck Haglind, Svetlana Lajic, Anna Nordenström   +4 more
wiley   +1 more source

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

JIMD Reports
Background Classic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism.
Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed   +5 more
doaj   +1 more source