Results 81 to 90 of about 1,590 (147)

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

, 2017
Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues.
Yi, Haiqing, Brooks, Elizabeth D, Sun, Baodong, Kishnani, Priya S, Zhang, Quan, Yang, Chunyu, Thurberg, Beth L   +6 more
core   +1 more source

Prenatal diagnosis of glycogen storage disease type IV

, 2006
Background Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disorder due to mutations in the GBE1 gene causing deficiency of the glycogen branching enzyme (GBE). Prenatal diagnosis has occasionally been performed by the measurement
Grigoriadou, Maria, Besharat, Isaam, Petersen, Michael B., Karadimas, Charalampos, Konstantinidou, Anastasia, Konstantina, Akman, H. Orhan, Kokotas, Haris, Patsouris, Efstratios, Thaker, Harshwardhan M., Anninos, Hector, Gyftodimou, Yolanda, Kaplan, Jeffrey B., Hatzikonstantinou, Fotopoulos, Spyridon, DiMauro, Salvatore   +15 more
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Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort

Frontiers in Molecular Neuroscience, 2016
Amyotrophic lateral sclerosis (ALS) is a progressive fatal multisystemic neurodegenerative disorder caused by preferential degeneration of upper and lower motor neurons.
Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Marita Munz, Matthis Synofzik, Matthis Synofzik, Ludger Schöls, Ludger Schöls, Thomas Gasser, Thomas Gasser, Torsten Grehl, Johannes Prudlo, Johannes Prudlo, Saskia Biskup, Saskia Biskup   +15 more
doaj   +1 more source

Treatment of pregnant spiny mice at mid gestation with a synthetic glucocorticoid has sex-dependent effects on placental glycogen stores

, 2013
Introduction: Elevated maternal glucocorticoids during human pregnancy suppress fetal growth, more so if the fetus is male. The synthetic glucocorticoid dexamethasone (DEX) is known to affect placental glucose transport, but whether this also affects ...
Moritz, K. M., Dickinson, H., Walker, D. W., O'Connell, B. A.   +3 more
core   +1 more source

Moderate nitrogen with medium planting density enhances sweet potato storage root growth via hormone signaling and carbon metabolism: A multi-omics perspective

Industrial Crops and Products
Optimizing nitrogen (N) and planting density is essential for sustainable sweet potato production, but the molecular mechanisms underlying their combined effects remain unclear.
Jinyang Zhao, Muhammad Shahid, Yujie Li, Luqman Khan, Chengcheng Si   +4 more
doaj   +1 more source

Guaiacol as a drug candidate for treating adult polyglucosan body disease

, 2018
Adult polyglucosan body disease (APBD) is a late-onset disease caused by intracellular accumulation of polyglucosan bodies, formed due to glycogen-branching enzyme (GBE) deficiency.
Senderowitz, H, Akman, HO, Khazanov, N, Lossos, A, Yue, WW, Pampou, S, Yetil, D, Kakhlon, O, Solmesky, LJ, Escriba, P, Ferreira, I, Alvarez, R, Yue, Wyatt, Weil, M   +13 more
core   +1 more source

Biological Network Analysis of Genes and Non-coding RNAs in Polycystic Ovary Syndrome

Cyprus Journal of Medical Sciences
BACKGROUND/AIMS: Polycystic ovary syndrome (PCOS) is a neuroendocrine and metabolic disorder. This study aimed to explore interactions among differentially expressed genes (DEGs) and Food and Drug Administration (FDA)-approved drugs relevant to PCOS ...
Bita Ostad Hasanzadeh, Parham Ostad Hasanzadeh, Pınar Tulay   +2 more
doaj   +1 more source

Murrumbidgee River at Johnson's Corner, near Gundagai, New South Wales [picture] /

, 1887
Part of the collection: Gundagai photograph collection, 1887-1927.; Title devised from acquisitions documentation.; Also available in electronic version via the Internet at: http://nla.gov.au/nla.pic-an8526479-1 ...
Gabriel, Charles Louis, 1857-1927.
core  

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

, 2016
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness.
Gitiaux, C., Barnerias, C., Oldfors, Anders,, Carlier, R. Y., Romero, N. B., Oldfors Hedberg, Carola,, Benezit, A., Quijano-Roy, S., Malfatti, E.   +8 more
core   +1 more source

Maternal heat abatement during gestation alters growth, immunity, thermotolerance, and hepatic gene expression in beef offspring during backgrounding

Frontiers in Veterinary Science
IntroductionThe objective of this study was to evaluate the fetal programming effects of removing maternal heat abatement during late gestation on offspring growth, thermotolerance, physiological responses, and liver gene expression during the ...
Matheus L. Ferreira, Isabelle P. Siqueira, Marcelo Vedovatto, Wellison J. S. Diniz, Barbara R. dos Reis, Giancarlo P. Silva, Ashley K. Edwards, A. Lee Faulk, Aline C. dos Santos, Juliana Ranches   +9 more
doaj   +1 more source