Results 81 to 90 of about 3,309 (181)

Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts

Journal of Lipid Research, 1998
The degradation of blood group glycolipid A-6-2 (GalNAc(α1→3)[Fucα1→2]Gal(β1→4)GlcNAc(β1→3)Gal (β1→4)Glc(β1→1′)Cer, IV2-α-fucosyl-IV3-α-N-acetylgalactosaminylneolactotetraosylceramide), tritium-labeled in its ceramide moiety, was studied in situ, in skin
Befekadu Asfaw, Detlev Schindler, Jana Ledvinová, Bohuslav Černý, František Šmíd, Ernst Conzelmann   +5 more
doaj   +1 more source

An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis

Journal of Pediatric Research, 2018
Aim:The purpose of our study is to submit the demographic, phenotypic and age at diagnosis characteristics of children with GM2 gangliosidosis.Materials and Methods: Patients with GM2 gangliosidosis who were referred to Ege University Faculty of Medicine,
Esra Er, Ebru Canda, Havva Yazıcı, Cenk Eraslan, Eser Sözmen, Sema Kalkan Uçar, Mahmut Çoker   +6 more
doaj   +1 more source

Mutation in GM2A Leads to a Progressive Chorea-Dementia Syndrome

Tremor and Other Hyperkinetic Movements, 2015
Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes.
Mustafa A. Salih, Mohammed Z. Seidahmed, Heba Y. El Khashab, Muddathir H. Hamad, Thomas M. Bosley, Sabrina Burn, Angela Myers, Megan L. Landsverk, Patricia L. Crotwell, Kaya Bilguvar, Shrikant Mane, Michael C. Kruer   +11 more
doaj   +1 more source

Lysosphingolipid Quantitation in Plasma and Dried‐Blood Spots Using Targeted High‐Resolution Mass Spectrometry

Journal of Clinical Laboratory Analysis, Volume 39, Issue 1, January 2025.
Sphingolipidoses is a group of rare inherited lysosomal diseases that require an early and accurate diagnosis for effective treatment and patient management. A high‐resolution mass spectrometry method coupled with liquid chromatography has beendeveloped to analyze lysosphingolipids in plasma and dried blood spots.
Franklin Ducatez, Wladimir Mauhin, Jules Ottaviani, Thomas Plichet, Carine Pilon, Olivier Lidove, Fréderic Barbey, Régine Perrichot, Sabrina Vergnaud, Marc G. Berger, Juliette Berger, Nadia Belmatoug, Yann Nadjar, Foudil Lamari, Esther Noel, Stéphane Marret, Soumeya Bekri, Abdellah Tebani   +17 more
wiley   +1 more source

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

Emerging Molecular‐Genetic Families in Dystonia: Endosome‐Autophagosome‐Lysosome and Integrated Stress Response Pathways

Movement Disorders, Volume 40, Issue 1, Page 7-21, January 2025.
Abstract Advances in genetic technologies and disease modeling have greatly accelerated the pace of introducing and validating molecular‐genetic contributors to disease. In dystonia, there is a growing convergence across multiple distinct forms of the disease onto core biological processes.
Nicole Calakos, Michael Zech
wiley   +1 more source

Lysosomal storage diseases in Portugal: 10 years of experience in molecular studies at National Health Institute (2006-2016) [PDF]

, 2016
As Doenças Lisososomais de Sobrecarga (DLS) são um grupo de mais de 50 doenças hereditárias do metabolismo, sendo a maioria causada por defeitos em enzimas lisossomais específicas.
Alves, Sandra, Amaral, Olga, Coutinho, Maria Francisca, Duarte, Ana Joana, Matos, Liliana, Santos, Juliana Inês   +5 more
core  

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

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources