Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls [PDF]
Frontiers in Genetics, 2023 Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1.
Matthew M. Gayed +4 more
doaj +2 more sources
Genetic diversity, population structure and selective sweeps in Italian Leccese chickens [PDF]
Poultry ScienceItaly hosts a rich heritage of poultry genetic resources, leading to the development of several unique native chicken breeds. Among them, the Leccese (LEC) chicken breed requires urgent genetic characterization to support conservation, development, and ...
Medhat S. Saleh +11 more
doaj +2 more sources
Children, 2023 Glycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from a complicated ...
Handan Bezirganoglu, Kubra Adanur Saglam
doaj +2 more sources
Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia. [PDF]
J Clin MedBackground and Objectives: Inherited metabolic disorders (IMDs) are a group of genetic disorders characterized by defects in enzymes or transport proteins involved in metabolic processes.
Latif M +4 more
europepmc +4 more sources
Supplementary Feeding Regulates Muscle Development of Oula Sheep (Tibetan Sheep, Ovis aries) Through Glucose Metabolism Pathway [PDF]
AnimalsTo investigate the genetic regulatory mechanism of supplementary feeding on muscle development in Oula sheep, we employed transcriptomic analysis to explore the differentially expressed genes (DEGs) in the longissimus dorsi muscle of Oula sheep at ...
Yumeng Li +5 more
doaj +2 more sources
Revealing the novel metabolism‐related genes in the ossification of the ligamentum flavum based on whole transcriptomic data [PDF]
JOR SpineBackgrounds The ossification of the ligamentum flavum (OLF) is one of the major causes of thoracic myelopathy. Previous studies indicated there might be a potential link between metabolic disorder and pathogenesis of OLF.
Yongzhao Zhao +4 more
doaj +2 more sources
Search for Ancient Selection Traces in Faverolle Chicken Breed (Gallus gallus domesticus) Based on Runs of Homozygosity Analysis [PDF]
AnimalsRuns of homozygosity (ROHs) are continuous homozygous segments of genomes that can be used to infer the historical development of the population. ROH studies allow us to analyze the genetic structure of a population and identify signs of selection.
Anna E. Ryabova +4 more
doaj +2 more sources
Genetic diagnosis of Jordanian patients with glycogen storage diseases [PDF]
Orphanet Journal of Rare DiseasesBackground Glycogen storage diseases (GSDs) are a group of hereditary metabolic disorders caused by defects in biosynthesis, and storage of glycogen that affect various organs, such as liver, muscles, and heart.
Mohammad Shboul +2 more
doaj +2 more sources
Molecular Genetics and Metabolism Reports, 2018 Background: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include
Hiroyuki Iijima +7 more
doaj +3 more sources
SIRT7 drives energy metabolic shifts in endometriosis via interaction with TUFM and Rhoa/Rock/Akt pathway activation [PDF]
Cellular and Molecular Life SciencesPurpose Endometriosis is characterized by the ectopic growth of endometrial-like tissue outside the uterus and altered energy metabolism, but the specific mechanisms involved remain unclear. This study aimed to investigate the impact of Sirtuins7 (SIRT7)
Huaying Zhang +8 more
doaj +2 more sources