Results 41 to 50 of about 2,627 (188)

Rescue of functional delF508-CFTR channels in cystic fibrosis epithelial cells by the alpha-glucosidase inhibitor miglustat. [PDF]

, 2006
In the disease cystic fibrosis (CF), the most common mutation delF508 results in endoplasmic reticulum retention of misfolded CF gene proteins (CFTR). We show that the alpha-1,2-glucosidase inhibitor miglustat (N-butyldeoxynojirimycin, NB-DNJ) prevents ...
Becq, Frederic, Noël, Sabrina, Noel, S, DeJonge, Hugo, Norez, Caroline, Bijvelds, Marcel, Jorna, Huub, Bijvelds, Marcel; id_orcid, Wilke, Martina, Norez, C, Melin, P, Melin, Patricia, Becq, F, de Jonge, Hugo   +13 more
core   +1 more source

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 10, Page 1626-1647, October 2026.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

The Case for Master Protocols for Rare Neurological Diseases

Annals of Neurology, Volume 100, Issue 3, Page 477-486, September 2026.
Master protocol trials allow for simultaneous multiple hypothesis testing within a common framework and might be applicable for rare diseases. In May 2025, the Network for Excellence in Neuroscience Clinical Trials convened a multistakeholder conference to discuss master protocol trials in rare neurological disorders.
Jennifer Vermilion, Sabrina Paganoni, Scott R. Plotkin, Melanie Quintana, Sara B. Calvert, Ineka T. Whiteman, Raymond Y. Wang, Nadia Moore, Erika F. Augustine   +8 more
wiley   +1 more source

Correlation Analysis of Clinical, Imaging, and Genetic Etiologies in Pediatric Hereditary Cerebellar Atrophy: A Single‐Center Study

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We identified predictors of early onset and poor prognosis in childhood cerebellar atrophy. Our findings advocate for a shift towards early, targeted diagnostic strategies based on genetic and imaging profiles. ABSTRACT Objective To investigate the associations among clinical features, neuroimaging findings, and genetic data in children with hereditary
Luyao Jin, Shuling Chen, Ying Liu, Renyi She, Wei Jiang   +4 more
wiley   +1 more source

Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C

Neurology International
(1) Background: Niemann–Pick type C1 (NP-C1) is a lysosomal storage disorder that results in the defective trafficking of cholesterol and other cellular lipids in the endosomal–lysosomal pathway.
Ali A. Mohamed, Willy Gan, Denis Babici, Veronica Hagan, Raphael Wald, Marc Swerdloff   +5 more
doaj   +1 more source

Miglustat vs Tideglusib in early-onset Hereditary Spastic Paraplegia models

, 2023
reserved
ROSSATO, ROBERTA
core  

Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations

European Journal of Neurology, Volume 33, Issue 6, June 2026.
In patients who continued ERT during pregnancy, it appeared to be safe, with no documented adverse effects for mother or child. While most patients experienced a mild worsening of clinical condition during pregnancy, the majority recovered well postpartum.
Maudy T. M. Theunissen, Zohra Hayat, Françoise Bouhour, Johanna M. P. van den Hout, Jean‐Baptiste Noury, Emmeline Lagrange, Aurélie Jouy, Nadjib Taouagh, Pieter A. van Doorn, Ans T. van der Ploeg, Pascal Laforêt, Nadine A. M. E. van der Beek   +11 more
wiley   +1 more source

Phenotypic expression of swallowing function in Niemann–Pick disease type C1

Orphanet Journal of Rare Diseases, 2022
Background Niemann–Pick disease type C1 (NPC1) is a rare autosomal recessive disease characterized by endolysosomal accumulation of unesterified cholesterol with progressive deterioration in swallowing, often leading to premature death.
Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Nicole M. Farhat, Andrew C. Smith, Simona Bianconi, An Dang Do, Michael C. Backman, Leonza Machielse, Forbes D. Porter   +9 more
doaj   +1 more source

Nrf2/NOX2 Pathway Dysregulation and Oxidative Stress Biomarkers in Gaucher Disease–Associated Parkinsonism: Insights Into a Potential Therapeutic Target

Journal of Cellular and Molecular Medicine, Volume 30, Issue 11, June 2026.
ABSTRACT Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder, yet its underlying genetic and molecular mechanisms remain incompletely understood. Variants in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase, are not only responsible for Gaucher disease (GD) but also represent a significant genetic risk factor ...
Alessio Ardizzone, Marika Lanza, Anna Paola Capra, Giovanna Casili, Maria Bulzomì, Fabiola De Luca, Irene Paterniti, Michela Campolo, Emanuela Esposito   +8 more
wiley   +1 more source

Iminosugars: Effects of Stereochemistry, Ring Size, and N-Substituents on Glucosidase Activities

Pharmaceuticals, 2019
N-substituted iminosugar analogues are potent inhibitors of glucosidases and glycosyltransferases with broad therapeutic applications, such as treatment of diabetes and Gaucher disease, immunosuppressive activities, and antibacterial and antiviral ...
Luís O. B. Zamoner, Valquiria Aragão-Leoneti, Ivone Carvalho   +2 more
doaj   +1 more source