Results 31 to 40 of about 2,137 (206)

Thymic alterations in GM2 gangliosidoses model mice. [PDF]

PLoS ONE, 2010
BACKGROUND: Sandhoff disease is a lysosomal storage disorder characterized by the absence of β-hexosaminidase and storage of GM2 ganglioside and related glycolipids.
Seiichi Kanzaki, Akira Yamaguchi, Kayoko Yamaguchi, Yoshitsugu Kojima, Kyoko Suzuki, Noriko Koumitsu, Yoji Nagashima, Kiyotaka Nagahama, Michiko Ehara, Yoshio Hirayasu, Akihide Ryo, Ichiro Aoki, Shoji Yamanaka   +12 more
doaj   +1 more source

Plasma Membrane Remodelling in GM2 Gangliosidoses Drives Synaptic Dysfunction

bioRxiv
Glycosphingolipids (GSL) are important bioactive components of cellular membranes. Complex GSLs, containing sialic acid residues are known as gangliosides and are highly abundant in the brain.
Nicholson AS, Priestman DA, Antrobus R, Williamson JC, Bush R, Barrow HG, Smith E, Dobrenis K, Bright NA, Platt FM, Deane JE.   +10 more
europepmc   +2 more sources

Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood‐onset dementia

Journal of Neurochemistry, Volume 166, Issue 3, Page 481-496, August 2023., 2023
Peripherally accessible biomarkers are urgently required to provide a prognosis for children with pre‐symptomatic Sanfilippo syndrome, enabling early trial/treatment access and optimal outcomes. Furthermore, clinical trials require biomarkers to better stratify patients into treatment groups and measure neurocognitive outcomes.
Leanne K. Winner, Mary‐Louise Rogers, Marten F. Snel, Kim M. Hemsley   +3 more
wiley   +1 more source

GM1‐gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 408-423, February 2023., 2023
Abstract GM1‐gangliosidosis (GM1) is a rare neurodegenerative disorder leading to early mortality and causing progressive decline of physical skills and cerebral functioning. No approved treatment for GM1 exists. In this study—the first to explore priorities of parents of subjects with pediatric onset forms of GM1—we address a crucial gap by ...
Amanda Bingaman, Christine Waggoner, Sara M. Andrews, Diana Pangonis, Marie Trad, Roberto Giugliani, Ruben Giorgino, Jeanine Jarnes, Rojan Vakili, Victoria Ballard, Holly L. Peay   +10 more
wiley   +1 more source

A single site in human β-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside [PDF]

, 2003
Human β-hexosaminidase A (Hex A) (αβ) is composed of two subunits whose primary structures are ∼60% identical. Deficiency of either subunit results in severe neurological disease due to the storage of GM2 ganglioside; Tay–Sachs disease, α deficiency, and
Abbink, E.J., Beulens, J.W., Dekker, J.M., Dekkers, O.M., DeVries, J.H., Diabet Pearl Parelsnoer Initiative, Elders, P.J.M., Holleman, F., Nijpels, G., Ozcan, B., Pijl, H., Rauh, S.P., Rutte, A., Rutters, F., Schaper, N.C., Schram, M.T., Sijbrands, E.J.G., Silvius, B., Stehouwer, C.D.A., Tack, C.J., Valk, H.W. de, Wolffenbuttel, B.H.R.   +21 more
core   +8 more sources

Critical role of iron in the pathogenesis of the murine gangliosidoses

Neurobiology of Disease, 2009
Neurodegeneration is a prominent feature of the gangliosidoses, a group of lysosomal storage diseases. Here we show altered iron homeostasis in mouse models of both GM1 and GM2 gangliosidoses, which are characterized by progressive depletion of iron in ...
Mylvaganam Jeyakumar, Ian Williams, David A. Smith, Timothy M. Cox, Frances M. Platt   +4 more
doaj   +1 more source

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022
Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox   +11 more
wiley   +1 more source

International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia, Volume 63, Issue 6, Page 1443-1474, June 2022., 2022
Abstract The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes that have a variable age of onset, based on expert consensus of the International League Against Epilepsy Nosology and Definitions Taskforce (2017–2021).
Kate Riney, Alicia Bogacz, Ernest Somerville, Edouard Hirsch, Rima Nabbout, Ingrid E. Scheffer, Sameer M. Zuberi, Taoufik Alsaadi, Satish Jain, Jacqueline French, Nicola Specchio, Eugen Trinka, Samuel Wiebe, Stéphane Auvin, Leonor Cabral‐Lim, Ansuya Naidoo, Emilio Perucca, Solomon L. Moshé, Elaine C. Wirrell, Paolo Tinuper   +19 more
wiley   +1 more source

Late-onset Tay-Sachs disease [PDF]

, 2017
We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of ...
Andrew W Barritt, Basil H Ridha, Bocchetta, Chen, Cooper-Knock, Elstein, Frey, Ghasemi, MacQueen, Neudorfer, Neudorfer, Osher, P Nigel Leigh, Shapiro, Stryer, Stuart J Anderson, Suzuki, Turner, Zaroff   +18 more
core   +1 more source

Das Spektrum melanozytärer Nävi und deren klinische Bedeutung

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 20, Issue 4, Page 483-506, April 2022., 2022
Zusammenfassung Die Größe der Thematik melanozytärer Nävi (MN) steht in einem direkten Verhältnis zur Relevanz in der alltäglichen klinischen Arbeit. Die klinische Präsentation ist hochgradig variabel und verschiedene MN haben unterschiedliche prognostische Bedeutung in Bezug auf Komorbidität und mögliches Entartungsrisiko.
Nina Frischhut, Bernhard Zelger, Fiona Andre, Bettina Gudrun Zelger   +3 more
wiley   +1 more source