keyword
MENU ▼
Read by QxMD icon Read
search

glycogen storage disease 1

keyword
https://www.readbyqxmd.com/read/28334808/downregulation-of-pathways-implicated-in-liver-inflammation-and-tumorigenesis-of-glycogen-storage-disease-type-ia-mice-receiving-gene-therapy
#1
Goo-Young Kim, Joon Hyun Kwon, Jun-Ho Cho, Lisa Zhang, Brian C Mansfield, Janice Y Chou
Glycogen storage disease type Ia (GSD-Ia) is characterized by impaired glucose homeostasis and long-term risks of hepatocellular adenoma (HCA) and carcinoma (HCC). We have shown that the non-tumor-bearing (NT), recombinant adeno-associated virus (rAAV) vector-treated GSD-Ia mice (AAV-NT mice) expressing a wide range (0.9-63%) of normal hepatic glucose-6-phosphatase-α activity maintain glucose homeostasis and display physiologic features mimicking animals living under calorie restriction (CR). We now show that in AAV-NT mice, the signaling pathways of the CR mediators, AMP-activated protein kinase (AMPK) and sirtuin-1 are activated...
March 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28317262/hydroxytyrosol-restores-proper-insulin-signaling-in-an-astrocytic-model-of-alzheimer-s-disease
#2
M Carmen Crespo, Joao Tomé-Carneiro, Cristina Pintado, Alberto Dávalos, Francesco Visioli, Emma Burgos-Ramos
Recent epidemiological evidence demonstrated that diabetes is a risk factor for AD onset and development. Indeed, meta-analyses of longitudinal epidemiologic studies show that diabetes increases AD risk by 50-100%, being insulin resistance (IR) the main binding link between diabetes and AD. Astrocytes are the foremost cerebral macroglial cells and are responsible for converting glucose into lactate and transfer it to neurons that use it as fuel, but Aβ(1-42) impairs insulin signaling and glycogen storage. Recent prospective studies showed that the Mediterranean diet is associated with lower incidence of AD...
March 20, 2017: BioFactors
https://www.readbyqxmd.com/read/28275655/neural-correlates-of-adaptive-working-memory-training-in-a-glycogen-storage-disease-type-iv-patient
#3
Kristin Lee, Thomas Ernst, Gro Løhaugen, Xin Zhang, Linda Chang
Glycogen storage disease type-IV has varied clinical presentations and subtypes. We evaluated a 38-year-old man with memory complaints, common symptoms in adult polyglucosan body disease subtype, and investigated cognitive and functional MRI changes associated with two 25-sessions of adaptive working memory training. He showed improved trained and nontrained working memory up to 6-months after the training sessions. On functional MRI, he showed increased cortical activation 1-3 months after training, but both increased and decreased activation 6-months later...
March 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28260452/unusual-indications-for-a-liver-transplant-a-single-center-experience
#4
Aydincan Akdur, Mahir Kirnap, Ebru H Ayvazoglu Soy, Figen Ozcay, Gokhan Moray, Gulnaz Arslan, Mehmet Haberal
OBJECTIVES: This study sought to evaluate the efficacy of liver transplant for unusual liver diseases. MATERIALS AND METHODS: The results of 476 patients who underwent liver transplant from 1988 to January 2015 were retrospectively analyzed. Two hundred forty-five of them were adult patients and 231 of them were pediatric. Thirty-one patients had unusual liver disease. RESULTS: Of the 31 patients with unusual liver disease, 9 (29%) were adult and 22 (71%) were pediatric patients...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28224773/novel-slc37a4-mutations-in-korean-patients-with-glycogen-storage-disease-ib
#5
Rihwa Choi, Hyung Doo Park, Jung Min Ko, Jeongho Lee, Dong Hwan Lee, Suk Jin Hong, Chang Seok Ki, Soo Youn Lee, Jong Won Kim, Junghan Song, Yon Ho Choe
BACKGROUND: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients. METHODS: Nine Korean patients from eight unrelated families with GSD Ib were included. SLC37A4 mutations were detected in all patients with direct sequencing using a PCR method and/or whole-exome sequencing. A comprehensive review of previously reported SLC37A4 mutations was also conducted...
May 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28213130/dipeptidyl-peptidase-4-impairs-insulin-signaling-and-promotes-lipid-accumulation-in-hepatocytes
#6
Kerstin Rufinatscha, Bernhard Radlinger, Jochen Dobner, Sabrina Folie, Claudia Bon, Elisabeth Profanter, Claudia Ress, Karin Salzmann, Gabriele Staudacher, Herbert Tilg, Susanne Kaser
Dipeptidyl-peptidase 4 [DPP-4) has evolved into an important target in diabetes therapy due to its role in incretin hormone metabolism. In contrast to its systemic effects, cellular functions of membranous DPP-4 are less clear. Here we studied the role of DPP-4 in hepatic energy metabolism. In order to distinguish systemic from cellular effects we established a cell culture model of DPP-4 knockdown in human hepatoma cell line HepG2. DPP-4 suppression was associated with increased basal glycogen content due to enhanced insulin signaling as shown by increased phosphorylation of insulin-receptor substrate 1 (IRS-1), protein kinase B/Akt and mitogen-activated protein kinases (MAPK)/ERK, respectively...
April 1, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28190645/pgm1-deficiency-substrate-use-during-exercise-and-effect-of-treatment-with-galactose
#7
N C Voermans, N Preisler, K L Madsen, M C H Janssen, B Kusters, N Abu Bakar, F Conte, V M L Lamberti, F Nusman, B G van Engelen, M van Scherpenzeel, J Vissing, D J Lefeber
Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents throughout life as myopathy with additional systemic symptoms. We report the effect of oral galactose treatment during five months in a patient with biochemically and genetically confirmed PGM1 deficiency. The 12-minute-walking distance increased by 225 m (65%) and transferrin glycosylation was restored to near-normal levels. The exercise assessments showed a severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity and that galactose treatment tended to normalize skeletal muscle substrate use from fat to carbohydrates during exercise...
January 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28160246/hypogonadotropic-hypogonadism-in-males-with-glycogen-storage-disease-type-1
#8
Evelyn M Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L Metzger, Sandra Sirrs
BACKGROUND: Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles...
February 4, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28126686/partial-correction-of-neutrophil-dysfunction-by-oral-galactose-therapy-in-glycogen-storage-disease-type-ib
#9
Rudolf Letkemann, Helmut Wittkowski, Aristotelis Antonopoulos, Teodor Podskabi, Stuart M Haslam, Dirk Föll, Anne Dell, Thorsten Marquardt
Glycogen storage disease type Ib (GSD-Ib) is characterized by impaired glucose homeostasis, neutropenia and neutrophil dysfunction. Mass spectrometric glycomic profiling of GSD-Ib neutrophils showed severely truncated N-glycans, lacking galactose. Experiments indicated the hypoglycosylation of the electron transporting subunit of NADPH oxidase, which is crucial for the defense against bacterial infections. In phosphoglucomutase 1 (PGM1) deficiency, an inherited disorder with an enzymatic defect just one metabolic step ahead, hypogalactosylation can be successfully treated by dietary galactose...
January 23, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28120463/a-novel-variant-in-the-pygm-gene-causing-late-onset-limb-girdle-myopathy-ptosis-and-camptocormia
#10
Chrystel Chéraud, Roseline Froissart, Béatrice Lannes, Andoni Echaniz-Laguna
INTRODUCTION: McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. It manifests classically with childhood-onset exercise-induced pain. METHODS: We report the characteristics of 2 unrelated patients with a new homozygous mutation of the PYGM gene. RESULTS: Two patients, aged 76 and 79 years, presented with severe upper and lower limb atrophy and weakness. Additionally, 1 patient presented with bilateral ptosis, and the other with camptocormia...
January 24, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28096054/glycogen-storage-disease-type-ia-mice-with-less-than-2-of-normal-hepatic-glucose-6-phosphatase-%C3%AE-activity-restored-are-at-risk-of-developing-hepatic-tumors
#11
Goo-Young Kim, Young Mok Lee, Joon Hyun Kwon, Jun-Ho Cho, Chi-Jiunn Pan, Matthew F Starost, Brian C Mansfield, Janice Y Chou
Glycogen storage disease type Ia (GSD-Ia), characterized by impaired glucose homeostasis and chronic risk of hepatocellular adenoma (HCA) and carcinoma (HCC), is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC). We have previously shown that G6pc-/- mice receiving gene transfer mediated by rAAV-G6PC, a recombinant adeno-associated virus (rAAV) vector expressing G6Pase-α, and expressing 3-63% of normal hepatic G6Pase-α activity maintain glucose homeostasis and do not develop HCA/HCC. However, the threshold of hepatic G6Pase-α activity required to prevent tumor formation remained unknown...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28077463/novel-method-for-detection-of-glycogen-in-cells
#12
Alexander V Skurat, Dyann Segvich, Anna A DePaoli-Roach, Peter J Roach
Glycogen, a branched polymer of glucose, functions as an energy reserve in many living organisms. Abnormalities in glycogen metabolism, usually excessive accumulation, can be caused genetically, most often through mutation of the enzymes directly involved in synthesis and degradation of the polymer leading to a variety of glycogen storage diseases (GSDs). Microscopic visualization of glycogen deposits in cells and tissues is important for the study of normal glycogen metabolism as well as diagnosis of GSDs...
January 10, 2017: Glycobiology
https://www.readbyqxmd.com/read/28057574/a-proteomic-approach-to-identify-metalloproteins-and-metal-binding-proteins-in-liver-from-diabetic-rats
#13
Camila Pereira Braga, José Cavalcante Souza Vieira, Ryan A Grove, Cory H T Boone, Aline de Lima Leite, Marília Afonso Rabelo Buzalaf, Ana Angélica Henrique Fernandes, Jiri Adamec, Pedro de Magalhaes Padilha
Proteins play crucial roles in biological systems, thus studies comparing the protein pattern present in a healthy sample with an affected sample have been widely used for disease biomarker discovery. Although proteins containing metal ions constitute only a small proportion of the proteome, they are essential in a multitude of structural and functional processes. The correct association between metal ions and proteins is essential because this binding can significantly interfere with normal protein function...
January 3, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28050582/data-on-the-phosphorylation-state-of-the-catalytic-serine-of-enzymes-in-the-%C3%AE-d-phosphohexomutase-superfamily
#14
Yingying Lee, Cristina Furdui, Lesa J Beamer
Most enzymes in the α-D-phosphohexomutase superfamily catalyze the reversible conversion of 1- to 6-phosphosugars. They play important roles in carbohydrate and sugar nucleotide metabolism, and participate in the biosynthesis of polysaccharides, glycolipids, and other exoproducts. Mutations in genes encoding these enzymes are associated with inherited metabolic diseases in humans, including glycogen storage disease and congenital disorders of glycosylation. Enzymes in the superfamily share a highly conserved active site serine that participates in the multi-step phosphoryl transfer reaction...
February 2017: Data in Brief
https://www.readbyqxmd.com/read/28032299/new-mutations-and-genotype-phenotype-correlation-in-late-onset-pompe-patients
#15
Can Ebru Bekircan-Kurt, Hafize Nalan Güneş, F Gokcem Yildiz, Esen Saka, Ersin Tan, Sevim Erdem-Özdamar
Pompe disease is a glycogen storage disease caused by acid alfa-glucosidase deficiency. Here, we report clinical properties, genetic features of our late-onset Pompe patients. Seven patients were followed during the last 10 years in our institute. The clinical and laboratory findings were reviewed. Neuropsychological evaluation was performed in four patients. Myotonic discharges of paraspinal muscles and denervation potentials were seen in all patients at the diagnosis and were disappeared during follow-up in two...
March 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/27974893/recoverable-record-high-lactic-acidosis-in-a-patient-with-glycogen-storage-disease-type-1-a-mixed-type-a-and-type-b-lactate-disorder
#16
Yonatan Oster, Isaiah D Wexler, Samuel N Heyman, Elchanan Fried
A 17-year-old patient with GSD type 1a (von Gierke disease) was hospitalized with an extremely elevated serum lactate following an intercurrent infection and interruption of his frequent intake of carbohydrates. The patient developed shock, oliguric renal failure, and cardiorespiratory failure requiring mechanical ventilation and inotropes. At the peak of metabolic decompensation and clinical instability, serum lactate reached a level of 47.6 mmol/L which was accompanied by a severe anion gap metabolic acidosis with a pH of 6...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27931223/pattern-and-prognostic-value-of-cardiac-involvement-in-patients-with-late-onset-pompe-disease-a-comprehensive-cardiovascular-magnetic-resonance-approach
#17
Matthias Boentert, Anca Florian, Bianca Dräger, Peter Young, Ali Yilmaz
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal α-1,4-glucosidase leading to accumulation of glycogen in target tissues with progressive organ failure. While the early infantile-onset form is characterized by early severe hypertrophic cardiomyopathy with cardiac and respiratory failure, clinically relevant cardiomyopathy seems to be uncommon in patients with late-onset Pompe disease, and the prevalence and nature of myocardial abnormalities are still to be clarified...
December 7, 2016: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/27896132/divergent-clinical-outcomes-of-alpha-glucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state
#18
Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama, Yoh Umeda
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27855487/transfer-of-therapeutic-genes-into-fetal-rhesus-monkeys-using-recombinant-adeno-associated-type-i-viral-vectors
#19
Thomas J Conlon, Cathryn S Mah, Christina A Pacak, Mary B Rucker Henninger, Kirsten E Erger, Marda L Jorgensen, C Chang I Lee, Alice F Tarantal, Barry J Byrne
Neuromuscular disorders such as Pompe disease (glycogen storage disease, type II), result in early and potentially irreversible cellular damage with a very limited opportunity for intervention in the newborn period. Pompe disease is due to deficiency in acid α-glucosidase (GAA) leading to lysosomal accumulation of glycogen in all cell types, abnormal myofibrillogenesis, respiratory insufficiency, neurological deficits, and reduced contractile function in striated muscle. Previous studies have shown that fetal delivery of recombinant adeno-associated virus (rAAV) encoding GAA to the peritoneal cavity of Gaa(-/-) mice resulted in high-level transduction of the diaphragm...
December 2016: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/27806790/-clinical-observation-on-human-alpha-glucosidase-in-treatment-of-five-patients-with-glycogen-storage-disease-%C3%A2
#20
L L Xu, L D Zhang, Y J Liang, W Tang, X Q Huang, Y X Pei, Y C Cheng, H M Huang, C Zhang
Objective: To evaluate the effect of enzyme replacement therapy (ERT) on glycogen storage disease typeⅡ(GSDⅡ). Method: The clinical data of three juvenile onset and two infant onset GSDⅡpatients were collected from First Affiliated Hospital of Sun Yat-sen University in October 2015 to July 2016.Patient 1 was female, the age of onset was 15 months. Patient 2 was male, the age of onset was 20 months. Patient 3 was female, the sister of patient 2, the age of onset was 47 months. Patient 4 was male, the age of onset was 5 months...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
keyword
keyword
112320
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"