Results 101 to 110 of about 4,309 (206)

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non‐inferiority sequential trial emulation

Journal of Internal Medicine, EarlyView.
Abstract Objective To compare the efficacy and safety of extended interval (Q3–4W) enzyme replacement therapy (ERT) versus standard biweekly (Q2W) ERT in clinically stable type 1 Gaucher disease (GD) patients. Methods We emulated a target trial with a sequential trial design, using data from the French Gaucher Disease Registry.
Maxime Beydon, Jérôme Stirnemann, Karima Yousfi, Samira Zebiche, Dalil Hamroun, Anaïs Brassier, Samia Pichard, Laure Swiader, Thierry Billette de Villemeur, Bénédicte Héron, Florence Dalbies, Bérengère Cador, Anne‐Sophie Guemann, Francis Gaches, Bénédicte Hivert, Vanessa Leguy‐Seguin, Agathe Masseau, Yves‐Marie Pers, Magali Pettazzoni, Soumeya Bekri, Catherine Caillaud, Edouard Le Guillou, Marie Szymanowski, Leonardo Astudillo, Wladimir Mauhin, Yann Nadjar, Christine Serratrice, Marc G. Berger, Fabrice Camou, Nadia Belmatoug, Yann Nguyen, the French Evaluation of Gaucher Disease Treatment Committee   +31 more
wiley   +1 more source

Genetics and Genomics in Sickle Cell Disease in Africa

American Journal of Hematology, Volume 101, Issue S1, Page 47-55, April 2026.
ABSTRACT Advanced genomic technologies are revolutionizing our ability to understand complex diseases. Large‐scale population studies are needed to realize the potential of using individual genetic information to personalize treatments for better patient outcomes for chronic non‐communicable diseases, such as sickle cell disease (SCD).
Siana Nkya, Julie Makani, Jonathan M. Flanagan   +2 more
wiley   +1 more source

The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease

Neural Regeneration Research, 2017
Gaucher disease (GD), the commonest lysosomal storage disorder, results from the lack or functional deficiency of glucocerebrosidase (GCase) secondary to mutations in the GBA1 gene. There is an established association between GBA1 mutations and Parkinson'
Kerri J Kinghorn, Amir M Asghari, Jorge Iván Castillo-Quan   +2 more
doaj   +1 more source

What is the origin of the Scottish populations of the European endemic Cherleria sedoides (Caryophyllaceae)? [PDF]

, 2015
Cherleria sedoides L. (Minuartia sedoides (L.) Hiern) is a montane perennial which, with some species in Minuartia sect. Spectabiles, is more closely related to Scleranthus than to other Minuartia species and is therefore best restored to the reinstated ...
Dillenberger, M.S., Kadereit, J.W., Moore, A.J., Preston, C.D., Valtuena, F.J.   +4 more
core   +2 more sources

The Grey Zone Project: Risk‐Based Classification of ABCD1 Variants in X‐Linked Adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Newborn screening (NBS) for X‐linked adrenoleukodystrophy (ALD) enables early identification of boys at risk for adrenal insufficiency (AI) and cerebral ALD (CALD). However, NBS frequently identifies ABCD1 variants of uncertain significance (VUS), which are associated with only borderline‐elevated C26:0‐lysophosphatidylcholine (LPC(26:0 ...
Troy C. Lund, Kelly Miettunen, Yorrick R. J. Jaspers, Caroline Bergner, Joshua L. Bonkowsky, Fabio Bruschi, Julie S. Cohen, Inge M. E. Dijkstra, Florian S. Eichler, Eric J. Mallack, Gajja S. Salomons, Robert Thompson, Davide Tonduti, Keith P. van Haren, Mirjam M. C. Wamelink, Ayelet Zerem, Marc Engelen, Stephan Kemp   +17 more
wiley   +1 more source

Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease

Frontiers in Cell and Developmental Biology, 2020
Parkinson disease, the second most common movement disorder, is a complex neurodegenerative disorder hallmarked by the accumulation of alpha-synuclein, a neural-specific small protein associated with neuronal synapses. Mutations in the glucocerebrosidase
Tae-Un Han, Richard Sam, Ellen Sidransky
doaj   +1 more source

Glucocerebrosidase and its relevance to Parkinson disease

Molecular Neurodegeneration, 2019
Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are among the most common known genetic risk factors for the development of Parkinson disease and related synucleinopathies.
Jenny Do, Cindy McKinney, Pankaj Sharma, Ellen Sidransky   +3 more
doaj   +1 more source

A protective role for N-acylphosphatidylethanolamine phospholipase D in 6-OHDA-induced neurodegeneration. [PDF]

, 2019
N-acylphosphatidylethanolamine phospholipase D (NAPE-PLD) catalyzes the cleavage of membrane NAPEs into bioactive fatty-acid ethanolamides (FAEs). Along with this precursor role, NAPEs might also serve autonomous signaling functions. Here, we report that
Palese, Francesca, Piomelli, Daniele, Pontis, Silvia, Realini, Natalia   +3 more
core  

Trans‐Omics Integration Reveals That the Kidney Contributes to Systemic Aging via Sexually Dimorphic Accumulation of Glycosphingolipids

MedComm, Volume 7, Issue 3, March 2026.
Female‐specific renal GluCer accumulation disrupts mitochondrial quality control via a conserved purine‐mTORC1 pathway, triggering a wave of uremic toxins into the systemic circulation that constitutes a female‐biased vulnerability toward renal‐driven multiorgan senescence.
Zhen Ni, Chenyin Cao, Yanlin Tian, Jinming Mu, He Tian, Zehua Wang, Shaohua Zhang, Mingjun Cao, Yuntian Yang, Wei Ling Florence Lim, Jingkang Cui, Huan Sun, Huan Miao, Yuan Wang, Jie Du, Timothy Kwok, Huan Chen, Sin Man Lam, Guanghou Shui   +18 more
wiley   +1 more source

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. [PDF]

, 2019
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Arrant, Andrew E, Boyle, Nicholas R, Grinberg, Lea T, Hoffmann, Madelyn Q, Kashyap, Shreya N, Miller, Bruce L, Murchison, Charles F, Nana, Alissa L, Ramos, Eliana Marisa, Roberson, Erik D, Roth, Jonathan R, Seeley, William W, Spina, Salvatore   +12 more
core