Results 61 to 70 of about 9,468,531 (154)

Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency

, 2022
Aims Several neurodegenerative and neuromuscular disorders are characterised by storage of polyglucosan, consisting of proteins and amylopectin-like polysaccharides, which are less branched than in normal glycogen.
Jovanovic, A., Roberts, M., Christopher Lindberg, Edoardo Malfatti, Ana Jovanovic, Oldfors, Anders,, Mark Roberts, Thomsen, Christer,, Kalev, O., Ognian Kalev, Lindberg, Christopher,, Malfatti, E., Anders Oldfors, Christer Thomsen   +13 more
core   +1 more source

Role of epigenetics and alterations in RNA metabolism in leukodystrophies

WIREs RNA, Volume 15, Issue 3, May/June 2024.
Leukodystrophies are rare brain disorders affecting white matter, with a clinical diversity still to be explained. Beyond genetics, epigenetic factors like histone modifications, DNA methylation, and non‐coding RNA dysregulation, as well as aberrant RNA maturation, are emerging as crucial contributors to these disorders.
Federica Rey, Letizia Esposito, Erika Maghraby, Alessia Mauri, Clarissa Berardo, Eleonora Bonaventura, Davide Tonduti, Stephana Carelli, Cristina Cereda   +8 more
wiley   +1 more source

Glycogen accumulation modulates life span in a mouse model of amyotrophic lateral sclerosis

Journal of Neurochemistry, Volume 168, Issue 5, Page 744-759, May 2024.
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the progressive loss of motor neurons in the spinal cord. Using the ALS mouse model expressing the G93A mutant of Superoxide Dismutase 1 (SOD1G93A), we found that glycogen accumulates in the spinal cord during disease progression, and that increased glycogen
M. Kathryn Brewer, Pascual Torres, Victòria Ayala, Manuel Portero‐Otin, Reinald Pamplona, Pol Andrés‐Benito, Isidro Ferrer, Matthew S. Gentry, Joan J. Guinovart, Jordi Duran   +9 more
wiley   +1 more source

Adult polyglucosan body disease.

Folia neuropathologica, 1994
A 45-years old unconscious woman was admitted to the hospital, where she died 3 days later. For the preceding month she had suffered from a headache. She had no past medical history. Cerebrospinal fluid pressure was increased, there were 350 mg/100 of protein, and 105 mg/100 of glucose.
T, Wierzba-Bobrowicz, B, Stroińska-Kuś
openaire   +1 more source

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series

Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 255-269, March 2024.
Abstract Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4‐alpha‐glucan branching enzyme) deficiency secondary to pathogenic variants on GBE1 gene. The incidence is evaluated to 1:600 000 to 1:800 000 of live
Charles R. Lefèvre, Sophie Collardeau‐Frachon, Nathalie Streichenberger, Sophie Berenguer‐Martin, Alix Clémenson, Jérôme Massardier, Fabienne Prieur, Hélène Laurichesse, Fanny Laffargue, Cécile Acquaviva‐Bourdain, Roseline Froissart, Magali Pettazzoni   +11 more
wiley   +1 more source

Targeted brain metabolomics in a 7 month-old GBE1-deficient adult polyglucosan body disease mouse model

Targeted metabolomic profiles (protein-normalized relative abundances of brain metabolites) were obtained in an adult polyglucosan body disease mouse model and littermate controls.
Nitschke, F (via Mendeley Data), Nitschke, Felix   +1 more
core   +1 more source

Deciphering the Polyglucosan Accumulation Present in Lafora Disease Using an Astrocytic Cellular Model

, 2023
Lafora disease (LD) is a neurological disorder characterized by progressive myoclonus epilepsy. The hallmark of the disease is the presence of insoluble forms of glycogen (polyglucosan bodies, or PGBs) in the brain.
Pascual Sanz, Campos, Ángela, Carla Rubio-Villena, Kumarasinghe, Lorena, Sanz, Pascual, Lorena Kumarasinghe, Moreno-Estellés, Mireia, Mireia Moreno-Estellés, Maria Adelaida Garcia-Gimeno, Rubio-Villena, Carla, Ángela Campos-Rodríguez, Campos-Rodríguez, Ángela, Garcia-Gimeno, Maria Adelaida   +12 more
core   +1 more source

Rapid development of pseudo‐ground‐glass bodies in liver transplants

Histopathology, Volume 85, Issue 1, Page 190-192, July 2024.
Anne Kristin Fischer, Hideo Baba, Elke Lainka, Julia Kälsch, Marion Müller, Uschi Zens, Reinhard Büttner, Hans‐Peter Fischer   +7 more
wiley   +1 more source

Pubertal timing and growth influences cardiometabolic risk factors in adult males and females. [PDF]

, 2011
OBJECTIVE: Early pubertal onset in females is associated with increased risk for adult obesity and cardiovascular disease, but whether this relationship is independent of preceding childhood growth events is unclear.
Widen, Elisabeth, Kaprio J, Pouta, Anneli, Ripatti S, Ripatti, Samuli, Palotie, Aarno, Palotie A, Laitinen, Jaana, Cousminer, Diana L., Hartikainen, Anna-Liisa, Kaprio, Jaakko, Silventoinen K, Silventoinen, Karri, Sovio, Ulla, Jarvelin, Marjo-Riitta, Peltonen, Leena, Cousminer, Diana L, Widen E, Peltonen L   +18 more
core   +1 more source

Update on polyglucosan storage diseases

, 2019
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of ...
Cenacchi G., Angelini C., Fanin M., Costa R., Marozzo R., Papa V., Pegoraro V.   +6 more
core   +1 more source