Results 71 to 80 of about 884 (171)

Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract RBCK1‐related disease is a rare, multisystemic disorder for which our current understanding of the natural history is limited. A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to harbor RBCK1 pathogenic variants, demonstrating challenges of correctly diagnosing RBCK1 ...
Haley M. Crane, Stephanie Asher, Laura Conway, Theodore G. Drivas, Staci Kallish   +4 more
wiley   +1 more source

Cerebral Glycogen Distribution and Aging [PDF]

, 2021
In the brain, glycogen metabolism has been implied in synaptic plasticity and learning, yet the distribution of this molecule has not been fully described.
Ashida, Hitoshi, Baba, Otto, Hirase, Hajime, Nakamura, Kouichi C., Oe, Yuki   +4 more
core  

The potential of dietary treatment in patients with glycogen storage disease type IV [PDF]

, 2020
There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV.
de Boer, Foekje, Derks, Terry G J, Fokkert-Wilts, Marieke, Peeks, Fabian, Rokicki, Dariusz, Ryan, Patrick T, Szymańska, Edyta, van den Heuvel, Marius C, van der Doef, Hubert P J, Weinstein, David A   +9 more
core   +1 more source

Use of levetiracetam for the successful treatment of suspected myoclonic seizures: five dogs (2016‐2022)

Journal of Small Animal Practice, Volume 65, Issue 6, Page 402-408, June 2024.
Objectives Myoclonic seizures are considered a type of generalised seizure characterised by brief, jerking movements of the body. The aim of this study is to describe cases of suspected canine myoclonic seizure of idiopathic aetiology and to discuss the successful use of the anticonvulsant levetiracetam as treatment in each of these cases.
J. Linder, J. Mehra, S. Miller, M. J. Lewis, R. T. Bentley, S. Thomovsky   +5 more
wiley   +1 more source

Proteomic profiling of polyglucosan bodies associated with glycogenin‐1 deficiency in skeletal muscle

Neuropathology and Applied Neurobiology, Volume 50, Issue 3, June 2024.
Polyglucosan storage disorders represent an emerging field within neurodegenerative and neuromuscular conditions. We combined molecular genetic analyses, quantitative mass spectrometry of laser micro‐dissected polyglucosan bodies, immunohistochemistry and western blot, and show that the absence of glycogenin‐1 (GYG1), a protein important for glycogen ...
Kittichate Visuttijai, Carola Hedberg‐Oldfors, Daniel J. Costello, Niamh Bermingham, Anders Oldfors   +4 more
wiley   +1 more source

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome [PDF]

, 2017
Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene,
Baudis, Michael, Bauer, Peter, Benedicenti, Francesco, Bornemann, Antje, Claeys, Kristl G., de Goede, Christian, Dufke, Andreas, Finkel, Richard S., Goebel, Hans H., Häussler, Martin, Inzana, Francesca, Kingston, Helen, Kirschner, Janbernd, Krieger, Michael, Lia Taratuto, Ana, Medne, Livija, Muschke, Petra, Pirra, Laura, Rivier, François, Roos, Andreas, Rudnik-Schöneborn, Sabine, Senderek, Jan, Sonmez, Fatma Mujgan, Spengler, Sabrina, Stanzial, Franco, Stendel, Claudia, Synofzik, Matthis, Tay, Stacey Kiat-Hong, Topaloglu, Haluk, Uyanik, Gökhan, Wand, Dorothea, Weis, Joachim, Williams, Denise, Zerres, Klaus   +33 more
core  

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

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

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