Results 61 to 70 of about 2,570 (187)

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Photocleavable activity-based acid glucosylceramidase probes

, 2023
Lysosomal acid glucosylceramidase (GBA1) is a lysosomal enzyme that degrades glucolipids with its main substrate being glucosylceramide (GlcCer). Defects in the GBA1 gene lead to glycosphingolipidosis Gaucher disease (GD), in which the hydrolysis of ...
Trenkler, N.E.
core  

1-O-acylceramides are natural components of human and mouse epidermis[S]

Journal of Lipid Research, 2013
The lipid-rich stratum corneum functions as a barrier against pathogens and desiccation inter alia by an unbroken meshwork of extracellular lipid lamellae.
Mariona Rabionet, Aline Bayerle, Christian Marsching, Richard Jennemann, Hermann-Josef Gröne, Yildiz Yildiz, Dagmar Wachten, Walter Shaw, James A. Shayman, Roger Sandhoff   +9 more
doaj   +1 more source

A double-hit in vivo model of GBA viral microRNA-mediated downregulation and human alpha-synuclein overexpression demonstrates nigrostriatal degeneration

Neurobiology of Disease, 2022
Preclinical and clinical studies support a strong association between mutations in the GBA1 gene that encodes beta-glucocerebrosidase (GCase) (EC 3.2.1.45; glucosylceramidase beta) and Parkinson's disease (PD).
Alexia Polissidis, Effrosyni Koronaiou, Georgia Nikolopoulou, Catherine Viel, Maria Nikatou, Marios Bogiongko, S. Pablo Sardi, Maria Xilouri, Kostas Vekrellis, Leonidas Stefanis   +9 more
doaj   +1 more source

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, Volume 56, Issue 5, Page 832-848, May 2026.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

Honey as a Natural Flavorful Product: A Comprehensive Review of Its Potential Biological Activities and Recent Studies

Food Science &Nutrition, Volume 14, Issue 4, April 2026.
Health impacts of honey. ABSTRACT Honey is a natural and nutritious product of the honey bee (Apis mellifera) with low water content. Its color ranges from white to amber, with taste varying accordingly. The chemical form and viscosity of honey depend on its composition.
Ecem Bolat, Ahmet Alperen Canbolat, Sümeyye Sarıtaş, Mauro Lombardo, Anna Maria Witkowska, Hesham El‐Seedi, Mikhael Bechelany, Sercan Karav   +7 more
wiley   +1 more source

Lentiviral gene therapy using cellular promoters cures type 1 Gaucher disease in mice.

, 2015
Gaucher disease is caused by an inherited deficiency of the enzyme glucosylceramidase. Due to the lack of a fully functional enzyme there is progressive build-up of the lipid component glucosylceramide. Insufficient glucosylceramidase activity results in
Ehinger, M., Schambach, Axel, Aerts, J.M.F.G., Karlsson, Stefan, Aerts, Johannes M., Mirzaian, Mina, Månsson, Jan-Eric, Rothe, M., Dahl, Maria, Mansson, J.E., Olsson, K., Marques, A. R. A., Marques, André R A, Dahl, M., Doyle, Alexander, Marques, A.R.A., Ehinger, Mats, Rothe, Michael, Månsson, Jan-Eric,, Modlich, Ute, Schambach, A., Aerts, J. M., Olsson, Karin, Aerts, Johannes M, Mirzaian, M., Karlsson, S., Doyle, A., Modlich, U., Marques, André R. A.   +28 more
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Molecular Pathogenesis of Memory Impairment in Parkinson's Disease: An Exploration of Underlying Mechanisms

Health Science Reports, Volume 9, Issue 4, April 2026.
ABSTRACT Background and Aim Parkinson's disease (PD) is primarily known for its motor symptoms but is increasingly recognized for its substantial cognitive effects, particularly on memory. This narrative review aims to clarify the complex molecular mechanisms contributing to memory impairment in PD by integrating findings from both animal and clinical ...
Mohammad Pourfridoni, Zohreh Hakemi, Habibeh Mashayekhi‐sardoo, Yousef Baghcheghi   +3 more
wiley   +1 more source

Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations

, 2019
The nonlysosomal glucosylceramidase β2 (GBA2) catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the human GBA2 gene have been associated with hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia ...
Wachten, D., Woeste, M.A., Endepols, H., Geyer, M., Aerts, J.M.F.G., Körschen, H.G., Hamzeh, H., Hansen, J.N., Stern, S., Marx, C., Berger, T., Dörmann, P., Boenigk, W., Aerts, J., Hansen, J., Bönigk, W., Sandhoff, R., Koerschen, H., Dittmann, D., Marx, C.E., Bradke, F., Grahn, E., Schonauer, S., Woeste, M., Berger, T.K., Raju, D.N., Raju, D., Gutbrod, K., Doermann, P.   +28 more
core   +1 more source

Motor subtypes and clinical characteristics in sporadic and genetic Parkinson's disease groups: analysis of the PPMI cohort

Frontiers in Neurology, 2023
IntroductionThe extensive clinical variations observed in Parkinson's disease (PD) pose challenges in early diagnosis and treatment initiation. However, genetic research in PD has significantly transformed the clinical approach to its treatment. Moreover,
Eun Hye Jeong, Jae Yong Lee, Sun-Ku Han, Yoo Sung Song, Yoo Sung Song   +4 more
doaj   +1 more source