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JOURNAL ARTICLE
Sharmistha Mitra, Baozhi Chen, John M Shelton, Silvia Nitschke, Jun Wu, Lindsay Covington, Mathew Dear, Tori Lynn, Mayank Verma, Felix Nitschke, Yasuhiro Fuseya, Kazuhiro Iwai, Bret M Evers, Berge A Minassian
At least five enzymes including three E3 ubiquitin ligases are dedicated to glycogen's spherical structure. Absence of any reverts glycogen to a structure resembling amylopectin of the plant kingdom. This amylopectinosis (polyglucosan body formation) causes fatal neurological diseases including adult polyglucosan body disease (APBD) due to glycogen branching enzyme deficiency, Lafora disease (LD) due to deficiencies of the laforin glycogen phosphatase or the malin E3 ubiquitin ligase and type 1 polyglucosan body myopathy (PGBM1) due to RBCK1 E3 ubiquitin ligase deficiency...
February 27, 2024: Acta Neuropathologica
#22
REVIEW
Petra May
No abstract text is available yet for this article.
February 2024: MMW Fortschritte der Medizin
#23
JOURNAL ARTICLE
Joseph P Dewulf, Nathalie Chevalier, Sandrine Marie, Maria Veiga-da-Cunha
Glycogen storage disease type Ib (GSD1b) and G6PC3-deficiency are rare autosomal recessive diseases caused by inactivating mutations in SLC37A4 (coding for G6PT) and G6PC3, respectively. Both diseases are characterized by neutropenia and neutrophil dysfunction due to the intracellular accumulation of 1,5-anhydroglucitol-6-phosphate (1,5-AG6P), a potent inhibitor of hexokinases. We recently showed that the use of SGLT2 inhibitor therapy to reduce tubular reabsorption of its precursor, 1,5-anhydroglucitol (1,5-AG), a glucose analog present in blood, successfully restored the neutropenia and neutrophil function in G6PC3-deficient and GSD1b patients...
November 2023: Molecular Genetics and Metabolism
#24
JOURNAL ARTICLE
Sergio Muñoz, Joan Bertolin, Veronica Jimenez, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Laia Vilà, Victor Sacristan, Elena Barbon, Giuseppe Ronzitti, Jihad El Andari, Warut Tulalamba, Quang Hong Pham, Jesus Ruberte, Thierry VandenDriessche, Marinee K Chuah, Dirk Grimm, Federico Mingozzi, Fatima Bosch
OBJECTIVE: Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy with progressive muscle weakness. In the Infantile-Onset PD (IOPD), death generally occurs <1 year of age. There is no cure for IOPD. Mouse models of PD do not completely reproduce human IOPD severity. Our main objective was to generate the first IOPD rat model to assess an innovative muscle-directed adeno-associated viral (AAV) vector-mediated gene therapy...
February 10, 2024: Molecular Metabolism
#25
JOURNAL ARTICLE
MohammadHossein MozafaryBazargany, Shiva Esmaeili, Mahshid Hesami, Golnaz Houshmand, Mohamad Mahdavi, Majid Maleki, Samira Kalayinia
AIMS: Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease where polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy. Variants of RBCK1 is related with PGBM1. We present a newly discovered pathogenic RBCK1 variant resulting in dilated cardiomyopathy (DCM) and a comprehensive literature review. METHODS AND RESULTS: Whole-exome sequencing (WES) was utilized to detect genetic variations in a 7-year-old girl considered the proband...
February 8, 2024: ESC Heart Failure
#26
JOURNAL ARTICLE
Matt Sinclair, Richard A Stein, Jonathan H Sheehan, Emily M Hawes, Richard M O'Brien, Emad Tajkhorshid, Derek P Claxton
Mediating the terminal reaction of gluconeogenesis and glycogenolysis, the integral membrane protein glucose-6-phosphate catalytic subunit 1 (G6PC1) regulates hepatic glucose production by catalyzing hydrolysis of glucose-6-phosphate (G6P) within the lumen of the endoplasmic reticulum. Consistent with its vital contribution to glucose homeostasis, inactivating mutations in G6PC1 causes glycogen storage disease (GSD) type 1a characterized by hepatomegaly and severe hypoglycemia. Despite its physiological importance, the structural basis of G6P binding to G6PC1 and the molecular disruptions induced by missense mutations within the active site that give rise to GSD type 1a are unknown...
February 2024: PNAS Nexus
#27
JOURNAL ARTICLE
Sylvie Lê, Matthieu Minty, Émile Boyer, Vincent Blasco-Baque, Martine Bonnaure-Mallet, Vincent Meuric
The liver has many important biological functions for the body, as it is involved in the storage and distribution of nutrients (carbohydrates to glycogen, lipids to triglycerides), the digestion of fats, the synthesis of blood proteins, and the detoxification of alcohol and drugs. The liver can be affected by various diseases such as viral or drug-induced hepatitis, fibrosis and cirrhosis, in which damaged hepatocytes are progressively replaced by scar tissue.
January 2024: Médecine Sciences: M/S
#28
REVIEW
Sarah C Grünert, Terry G J Derks, Helen Mundy, R Neil Dalton, Jean Donadieu, Peter Hofbauer, Neil Jones, Sema Kalkan Uçar, Jamas LaFreniere, Enrique Landelino Contreras, Surekha Pendyal, Alessandro Rossi, Blair Schneider, Ronen Spiegel, Karolina M Stepien, Dorota Wesol-Kucharska, Maria Veiga-da-Cunha, Saskia B Wortmann
Glycogen storage disease type Ib (GSD Ib, biallelic variants in SLC37A4) is a rare disorder of glycogen metabolism complicated by neutropenia/neutrophil dysfunction. Since 2019, the SGLT2-inhibitor empagliflozin has provided a mechanism-based treatment option for the symptoms caused by neutropenia/neutrophil dysfunction (e.g. mucosal lesions, inflammatory bowel disease). Because of the rarity of GSD Ib, the published evidence on safety and efficacy of empagliflozin is still limited and does not allow to develop evidence-based guidelines...
January 17, 2024: Molecular Genetics and Metabolism
#29
JOURNAL ARTICLE
Silvia Ribback, Kristin Peters, Mohd Yasser, Jessica Prey, Paula Wilhelmi, Qin Su, Frank Dombrowski, Peter Bannasch
BACKGROUND AND AIMS: Hepatocellular ballooning is a common finding in chronic liver disease, mainly characterized by rarefied cytoplasm that often contains Mallory-Denk bodies (MDB). Ballooning has mostly been attributed to degeneration but its striking resemblance to glycogenotic/steatotic changes characterizing preneoplastic hepatocellular lesions in animal models and chronic human liver diseases prompts the question whether ballooned hepatocytes (BH) are damaged cells on the path to death or rather viable cells, possibly involved in neoplastic development...
January 28, 2024: Journal of Clinical and Translational Hepatology
#30
JOURNAL ARTICLE
Julie C Ullman, Kevin T Mellem, Yannan Xi, Vyas Ramanan, Hanne Merritt, Rebeca Choy, Tarunmeet Gujral, Lyndsay E A Young, Kerrigan Blake, Samnang Tep, Julian R Homburger, Adam O'Regan, Sandya Ganesh, Perryn Wong, Terrence F Satterfield, Baiwei Lin, Eva Situ, Cecile Yu, Bryan Espanol, Richa Sarwaikar, Nathan Fastman, Christos Tzitzilonis, Patrick Lee, Daniel Reiton, Vivian Morton, Pam Santiago, Walter Won, Hannah Powers, Beryl B Cummings, Maarten Hoek, Robert R Graham, Sanjay J Chandriani, Russell Bainer, Anna A DePaoli-Roach, Peter J Roach, Thomas D Hurley, Ramon C Sun, Matthew S Gentry, Christopher Sinz, Ryan A Dick, Sarah B Noonberg, David T Beattie, David J Morgans, Eric M Green
Glycogen synthase 1 (GYS1), the rate-limiting enzyme in muscle glycogen synthesis, plays a central role in energy homeostasis and has been proposed as a therapeutic target in multiple glycogen storage diseases. Despite decades of investigation, there are no known potent, selective small-molecule inhibitors of this enzyme. Here, we report the preclinical characterization of MZ-101, a small molecule that potently inhibits GYS1 in vitro and in vivo without inhibiting GYS2, a related isoform essential for synthesizing liver glycogen...
January 17, 2024: Science Translational Medicine
#31
JOURNAL ARTICLE
Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian
BACKGROUND: Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects. CASE PRESENTATION: A 4-and-a-half-year-old Caucasian girl was referred to our clinic with a liver biopsy report indicating a diagnosis of glycogen storage disease. Prior to being referred to our clinic, the patient had been under the care of pediatric gastroenterologists...
January 12, 2024: Journal of Medical Case Reports
#32
JOURNAL ARTICLE
Seon Ju Mun, Yeon-Hwa Hong, Yongbo Shin, Jaeseo Lee, Hyun-Soo Cho, Dae-Soo Kim, Kyung-Sook Chung, Myung Jin Son
Genetic liver disease modeling is difficult because it is challenging to access patient tissue samples and to develop practical and relevant model systems. Previously, we developed novel proliferative and functional liver organoids from pluripotent stem cells; however, the protocol requires improvement for standardization and reproducible mass production. Here, we improved the method such that it is suitable for scalable expansion and relatively homogenous production, resulting in an efficient and reproducible process...
December 22, 2023: Scientific Reports
#33
JOURNAL ARTICLE
Mona Lichtblau, Laura Mayer, Deepa Gopalan, Peter Dorfmüller, Silvia Ulrich
Ever since the second world symposium on pulmonary hypertension (PH) held in Evian, France, in 1998, PH has been classified into five major clinical groups. Group 5 PH includes a variety of distinct conditions with unclear and/or multifactorial underlying pathologies. Management of these patients is challenging as the number of patients within these groups is often small, not all individuals with certain underlying conditions are affected by PH and patients exhibit distinct symptoms due to different underlying diseases...
December 31, 2023: European Respiratory Review: An Official Journal of the European Respiratory Society
#34
JOURNAL ARTICLE
Tamayo Takahashi, Kana Oue, Eiji Imado, Mitsuru Doi, Yoshitaka Shimizu, Mitsuhiro Yoshida
BACKGROUND: Glycogen storage disease (GSD) is a group of rare inherited metabolic disorders caused by enzyme deficiencies in glycogen catabolism. GSD type Ia is a congenital deficiency of the enzyme responsible for the final step in glucose production by glycolysis, resulting in impaired carbohydrate metabolism. CASE PRESENTATION: A 14-year-old boy with GSD type Ia was scheduled for a maxillary cystectomy under general anesthesia. He was taking oral sugars such as uncooked cornstarch regularly to prevent hypoglycemia...
December 20, 2023: JA Clinical Reports
#35
JOURNAL ARTICLE
Josefin Weber, Carsten Linti, Christiane Lörch, Marbod Weber, Madelene Andt, Christian Schlensak, Hans Peter Wendel, Michael Doser, Meltem Avci-Adali
The liver is a vital organ with numerous functions, including metabolic functions, detoxification, and the synthesis of secretory proteins. The increasing prevalence of liver diseases requires the development of effective treatments, models, and regenerative approaches. The field of liver tissue engineering represents a significant advance in overcoming these challenges. In this study, 3D biohybrid constructs were created by combining hepatocyte-like cells (HLCs) derived from patient-specific footprint-free human induced pluripotent stem cells (hiPSCs) and 3D melt-electrospun poly-ε-caprolactone (PCL) scaffolds...
December 13, 2023: Scientific Reports
#36
JOURNAL ARTICLE
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Rafael Jenaro Martinez-Marin, David Reyes-Leiva, Andrés Nascimento, Nuria Muelas, C Dominguez-González, Carmen Paradas, Montse Olivé, Mar García-Romero, Samuel Ignacio Pascual-Pascual, Josep Maria Grau, Miguel Angel Barba-Romero, Maria Teresa Gomez-Caravaca, Javier de Las Heras, Pilar Casquero, Maria Dolores Mendoza, Juan Carlos de León, Antonio Gutierrez, Germán Morís, Raquel Blanco-Lago, Alba Ramos-Fransi, Guillem Pintós, Maria José García-Antelo, Maria Rabasa, Yolanda Morgado, Mercedes Usón, Francisco Javier Miralles, Jose Eulalio Bárcena-Llona, Ana Belén Gómez-Belda, Maria Isabel Pedraza-Hueso, Miryam Hortelano, Antoni Colomé, Guillermina Garcia-Martin, Adolfo Lopez de Munain, Ivonne Jericó, Lucía Galán-Dávila, Julio Pardo, Giorgina Salgueiro-Origlia, Jorge Alonso-Pérez, Francesc Pla-Junca, Marianela Schiava, Sonia Segovia-Simón, Jordi Díaz-Manera
Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). There is no published data from Spain regarding the existing number of cases, regional distribution, clinical features or, access and response to the treatment. We created a registry to collect all these data from patients with Pompe in Spain. Here, we report the data of the 122 patients registered including nine IOPD and 113 LOPD patients...
January 2024: Neuromuscular Disorders: NMD
#37
Manuel Pühringer, Astrid Eisenkölbl, Gudrun Gröppel
Polyglucosan body myopathy-1 (PGBM1) is an extremely rare glycogen storage diseases that leads to muscle weakness and cardiomyopathy due to the accumulation of polyglucosan bodies. The clinical presentation appears to be partially dependent on the genetic mutation, but no clear genotype/phenotype correlation is currently possible. We describe a 7 year old patient, who initially presented with recurrent vomiting and respiratory infections until her first year of life. Diagnostic workup revealed an achalasia and the whole exome sequencing revealed an homozygous RBCK1 ( RANBP2-type and C3HC4-type zinc finger containing 1 ) variant (c...
March 2024: Molecular Genetics and Metabolism Reports
#38
JOURNAL ARTICLE
Q Y Wang, J S Wang, L Chen
Objective: To investigate the clinical pathology and gene mutation characteristics of patients with glycogen storage disease type Ⅳ (GSD Ⅳ). Methods: The clinical data, liver histopathology and ultrastructural morphology, and gene sequencing results of 5 GSD Ⅳ cases diagnosed in the Children's Hospital Affiliated to Shanghai Jiaotong University School of Medicine and the Children's Hospital of Fudan University from January 2015 to February 2022 were collected and analyzed retrospectively...
December 8, 2023: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
#39
JOURNAL ARTICLE
Barry J Byrne, Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, Paula R Clemens, Ozlem Goker-Alpan, Xue Ming, Mark Roberts, Matthias Vorgerd, Kumaraswamy Sivakumar, Ans T van der Ploeg, Mitchell Goldman, Jacquelyn Wright, Fred Holdbrook, Vipul Jain, Elfrida R Benjamin, Franklin Johnson, Sheela Sitaraman Das, Yasmine Wasfi, Tahseen Mozaffar
Cipaglucosidase alfa plus miglustat (cipa + mig) is a novel, two-component therapy for Pompe disease. We report data from the Phase I/II ATB200-02 study for up to 48 months of treatment. Four adult cohorts, including one non-ambulatory ERT-experienced (n = 6) and three ambulatory cohorts, (two enzyme replacement therapy [ERT]-experienced cohorts [2-6 years (n = 11) and ≥ 7 years (n = 6)]), one ERT-naïve cohort (n = 6), received 20 mg/kg intravenous-infused cipa plus 260 mg oral mig biweekly...
December 6, 2023: Journal of Neurology
#40
JOURNAL ARTICLE
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Jorge Diogo Da Silva, Ângela Pereira, Ana Rita Soares, Arlindo Guimas, Sara Rocha, Márcio Cardoso, Cristina Garrido, Célia Azevedo Soares, Isabel Serra Nunes, Ana Maria Fortuna, Dulce Quelhas, Sónia Figueiroa, Rosa Ribeiro, Manuela Santos, Esmeralda Martins, Nataliya Tkachenko
BACKGROUND: Glycogen storage disease type V (GSDV) is an autosomal recessive metabolic condition caused by pathogenic PYGM variants. This is an underdiagnosed condition as it presents with exercise intolerance in children. We reviewed the GSDV cases of a tertiary hospital center to assess diagnostic timing/accuracy, as well as potential clinical/analytical predictors of such factors. METHODS: We retrospectively reviewed all GSDV cases with follow-up in both Pediatric and Adult Metabolic Diseases consultations...
December 5, 2023: Pediatric Research
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