Results 81 to 90 of about 3,090 (194)

The juvenile gangliosidoses: A timeline of clinical change

Molecular Genetics and Metabolism Reports, 2020
Background: The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood ...
Kelly E. King, Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes-Utz   +3 more
doaj   +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

Lysosomal storage diseases [PDF]

, 2017
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include
Ferreira, Carlos, Gahl, William
core   +2 more sources

Nanoplastics: Immune Impact, Detection, and Internalization after Human Blood Exposure by Single‐Cell Mass Cytometry

Advanced Materials, Volume 37, Issue 12, March 26, 2025.
The study investigates the effects of nanoplastics on human immune cells using palladium‐doped polystyrene nanoplastics and mass cytometry. It reveals that nanoplastics accumulate in various immune cell subpopulations, reducing cell viability and impairing function. In vivo experiments in mice confirm their accumulation in several immune cells.
Laura Fusco, Arianna Gazzi, Linda Giro, Roman B. Schefer, Sènan Mickael D'Almeida, Roberta Cagliani, Martina Zoccheddu, Recep Uyar, Ömur Besbinar, Doğantan Çelik, Acelya Yilmazer, Denise M. Mitrano, Marco Orecchioni, Lucia Gemma Delogu   +13 more
wiley   +1 more source

A propósito de un caso de gangliosidosis GM-2 tipo II: enfermedad de Sandhoff

Revista Médica Electrónica, 2015
Las gangliosidosis son un conjunto de enfermedades hereditarias de almacenamiento lisosómico, debidas a un acúmulo de gangliósidos, sobre todo en las neuronas.
Irelis González López, Enrique Marcos Sierra Benítez, Mairiannys Quianella León Pérez, Mayra Luz Leiva González, Samia Hernández Dreke, Yadiel González Fernández   +5 more
doaj  

An Inducible Mouse Model of Late Onset Tay–Sachs Disease

Neurobiology of Disease, 2002
Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase α and β subunits respectively. The Sandhoff (Hexb−/−) mouse has severe neurological disease and mimics the human infantile onset variant. However, the
Mylvaganam Jeyakumar, David Smith, Elena Eliott-Smith, Mario Cortina-Borja, Gabriele Reinkensmeier, Terry D. Butters, Thorsten Lemm, Konrad Sandhoff, V.Hugh Perry, Raymond A. Dwek, Frances M. Platt   +10 more
doaj   +1 more source

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction.

PLoS Biology
Glycosphingolipids (GSL) are important bioactive membrane components. GSLs containing sialic acids, known as gangliosides, are highly abundant in the brain and diseases of ganglioside metabolism cause severe early-onset neurodegeneration. The ganglioside
Alex S Nicholson, David A Priestman, Robin Antrobus, James C Williamson, Reuben Bush, Shannon J McKie, Henry G Barrow, Emily Smith, Kostantin Dobrenis, Nicholas A Bright, Frances M Platt, Janet E Deane   +11 more
doaj   +1 more source

Two‐Year Follow‐Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease

Journal of Veterinary Internal Medicine, 2018
A 13‐month‐old female Toy Poodle was presented for progressive ataxia and intention tremors of head movement. The diagnosis of Sandhoff's disease (GM2 gangliosidosis) was confirmed by deficient β‐N‐acetylhexosaminidase A and B activity in circulating ...
D. Ito, C. Ishikawa, N.D. Jeffery, K. Ono, M. Tsuboi, K. Uchida, O. Yamato, M. Kitagawa   +7 more
doaj   +1 more source

Discovering disease causing variants in dogs through whole genome sequencing [PDF]

, 2017
Dr. Gary S. Johnson, Dissertation Supervisor.includes vitaThis dissertation focuses on the use of whole genome sequencing (WGS) for the identification of disease causing variants in canine genomes. A brief review on the historical milestones of genetics,
Kolicheski, Ana Leticia, 1985-
core   +1 more source

Gene Therapy Approaches for Neurological Lysosomal Storage Diseases [PDF]

, 2014
GM1 and GM2 gangliosidosis are lysosomal storage diseases caused by deficiency of enzymes required for ganglioside catabolism. Enzyme deficiencies cause neuronal accumulation of ganglioside resulting in progressive neurodegeneration and premature death ...
McCurdy, Victoria
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