Results 41 to 50 of about 4,845,721 (162)

Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine

, 2008
Sandhoff disease (gangliosidosis type 0) is a lysosomal storage disorder with a deficiency of hexosaminidases A and B. After an initially normal development the clinical course of affected children is severe and rapidly progressive leading to spastic ...
Wilken, Barbara, Frahm, Jens, Dechent, R., Hanefeld, Folker   +3 more
core   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. [PDF]

, 2010
Sandhoff disease is a lipid-storage disorder caused by a defect in ganglioside metabolism. It is caused by a lack of functional N-acetyl-beta-d-glucosaminidase A and B due to mutations in the HEXB gene.
Engelen, B.G.M. van, Warrenburg, B.P.C. van de, Lefeber, D.J., Delnooz, C.C.S., Dekomien, G., Zwarts, M.J., Schelhaas, H.J., Hoffjan, S., Langemeijer, S.M.C., Wevers, R.A.   +9 more
core  

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Raphael Schiffmann
wiley   +1 more source

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions

European Journal of Neurology, Volume 32, Issue 5, May 2025.
GALC Defects and Neurodegenerative Impact: Exploring the role of GALC variants in adults with neurodegenerative symptoms and identifying an undiagnosed case of adult‐onset Krabbe disease. Metabolic Interplay: Focus on interrelated pathways as potential risk factors for neurodegeneration in heterozygous lysosomal storage disorder carriers.
Federica Feo, Luciana Tramacere, Silvia Ramat, Alessandra Govoni, Luca Caremani, Giulia Grigioni, Davide Mei, Silvia Falliano, Francesca Marin, Lorenzo Ferri, Antonella Paoli, Marina Rinaldi, Giancarlo la Marca, Daniela Ombrone, Elena Procopio, Renzo Guerrini, Amelia Morrone, Anna Caciotti   +17 more
wiley   +1 more source

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up.

, 2010
GM2 gangliosidosis type Sandhoff is caused by a defect of beta-hexosaminidase, an enzyme involved in the catabolism of gangliosides. It has been proposed that substrate reduction therapy using N-butyl-deoxynojirimycin (miglustat) may delay neurological ...
Silvestri, Gabriella
core   +1 more source

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis

Clinical and Translational Science, Volume 18, Issue 3, March 2025.
ABSTRACT GM1 and GM2 gangliosidosis are inherited, progressive, neurodegenerative lysosomal disorders of variable onset and disease progression. GM1 gangliosidosis is a result of biallelic pathogenic variants in the GLB1 gene, which confer absent or reduced β‐galactosidase enzyme activity and lead to the accumulation of glycoconjugates such as ...
Sydney Stern, Karryn Crisamore, Ruo‐Jing Li, Michael Pacanowski, Robert Schuck   +4 more
wiley   +1 more source

Organelle‐Targeting Nanoparticles

Advanced Science, Volume 12, Issue 7, February 17, 2025.
This review examines nanoparticle‐based therapies targeting organelles like the nucleus, mitochondria, and lysosomes. Nanoparticle design, targeting strategies, and their applications in treating diseases linked to organelle dysfunction are discussed, highlighting the potential for improved treatment outcomes and reduced off‐target effects.
John Soukar, Nicholas A. Peppas, Akhilesh K. Gaharwar   +2 more
wiley   +1 more source

Pathophysiology of Sandhoff Disease and Novel Thrapeutic Targets

YAKUGAKU ZASSHI, 2023
Sandhoff disease (SD) is a glycosphingolipid storage disease resulting from a genetic mutation in HEXB and associated deficiency in β-hexosaminidase activity. This defect causes abnormal accumulation of ganglioside GM2 and related glycolipids in lysosomes, resulting in progressive deterioration of the central nervous system.
openaire   +2 more sources