Results 1 to 10 of about 3,643 (194)

The loss‐of‐function variant in MFSD3 could play a crucial role in the pathogenesis of dementia with Lewy bodies [PDF]

Alzheimers Dement
Abstract Background Dementia with Lewy bodies (DLB) is the second most common form of degenerative dementia in older people. The clinical feature of DLB includes cognitive impairment, visual hallucinations, parkinsonism, and fluctuating attention.
Kimura T, Suganuma M, Sawamura K, Asanomi Y, Shimoda N, Ogiso N, Hosoyama T, Niida S, Ozaki K, Shigemizu D.   +9 more
europepmc   +2 more sources

Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1 [PDF]

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract We describe a case in which a type 1 Gaucher patient developed ichthyosis weeks after starting substrate reduction therapy (SRT) with eliglustat. There are no reports of ichthyosis in the literature in enzyme replacement or SRT for Gaucher disease. Ichthyosis is seen with type 2 and 3 Gaucher disease, but not type 1.
Jack Herbster, Carlos E. Prada, Carly A. Rasmussen, Allegra Quadri, Victoria Kuritza, Michael Viglione, Sheryl Hoyer   +6 more
wiley   +3 more sources

Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach. [PDF]

JIMD Rep
ABSTRACT Despite life‐long pharmacotherapy for many people affected by lysosomal storage diseases, no data are available on their beliefs about their treatments. Therapeutic options range from disease‐specific, with varying levels of effectiveness, to purely supportive.
Corazolla EM, Langeveld M, Brands MMMG, Sjouke B, Hollak CEM.   +4 more
europepmc   +2 more sources

Left corticospinal tract could be a biomarker to identify the dual prodromal LRRK2/GBA mutated Parkinson's disease [PDF]

CNS Neurosci Ther
Identification of a specific biomarker, the 38th node of the left corticospinal tract (L‐CST), for distinguishing double mutation prodromal Parkinson's disease (LRRK2‐GBA‐prodromal) from healthy individuals. This finding has potential implications for early diagnosis and personalized medical management.
Lin F, Ruan X, Zou X, Weng H, Zeng Y, Zheng J, Ye Q, Meng F, Chen X, Cai G.   +9 more
europepmc   +2 more sources

Untargeted metabolomics identifies metabolic dysregulation of sphingolipids associated with aggressive chronic lymphocytic leukaemia and poor survival

Clinical and Translational Medicine, Volume 13, Issue 12, December 2023., 2023
An investigation was carried out to establish a comprehensive metabolomic profiling of leukaemic B cells with a focus on portraying metabolic features associated with aggressive chronic lymphocytic leukaemia (CLL). Specific sphingolipid species, C16:0 glucosylceramide and sphinganine, were identified as novel biomarkers of CLL, and were inversely ...
Flora Nguyen Van Long, Délya Valcourt‐Gendron, Patrick Caron, Michèle Rouleau, Lyne Villeneuve, David Simonyan, Trang Le, Roxanne Sergerie, Isabelle Laverdière, Katrina Vanura, Chantal Guillemette   +10 more
wiley   +1 more source

Enhancing Functional Protein Design Using Heuristic Optimization and Deep Learning for Anti‐Inflammatory and Gene Therapy Applications

Proteins: Structure, Function, and Bioinformatics, Volume 93, Issue 7, Page 1238-1256, July 2025.
ABSTRACT Protein sequence design is a highly challenging task, aimed at discovering new proteins that are more functional and producible under laboratory conditions than their natural counterparts. Deep learning‐based approaches developed to address this problem have achieved significant success.
Ayşenur Soytürk Patat, Özkan Ufuk Nalbantoğlu   +1 more
wiley   +1 more source

Semantic variant primary progressive aphasia with ANXA11 p.D40G

Alzheimer's &Dementia, Volume 21, Issue 3, March 2025.
Abstract INTRODUCTION Pathogenic variants of annexin A11 (ANXA11) have been identified in patients with amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD). We explored ANXA11 pathogenic variants in a Korean FTD cohort to investigate the prevalence and the role of ANXA11 variation in FTD.
Sun Min Lee, Soo Jin Yoon, Kyung Won Park, Ahro Kim, Hee Jin Kim, Na‐Yeon Jung, Hyemin Jang, William W. Seeley, Young‐Eun Kim, So Young Moon, Eun‐Joo Kim, the Longitudinal study of Early onset dementia And Family members (LEAF) investigators   +11 more
wiley   +1 more source

Gene therapy for genetic diseases: challenges and future directions

MedComm, Volume 6, Issue 2, February 2025.
The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie, Jianghua Tuo, Feilong Chen, Haili Ding, Lei Lyu   +4 more
wiley   +1 more source

Mitochondrial dysfunction, cause or consequence in neurodegenerative diseases?

BioEssays, Volume 47, Issue 1, January 2025.
Endolysosomal and mitochondrial dysfunctions are major pathological hallmarks in neurodegeneration. In healthy neurons, lysosomes maintain mitochondrial health through membrane contact sites and local translation. In disease, failing lysosomal degradation compromises mitophagy, activating cGAS‐STING leading to further congestion and immune responses ...
Zoë P. Van Acker, Thomas Leroy, Wim Annaert   +2 more
wiley   +1 more source

Comparing GBA1‐Parkinson's disease and idiopathic Parkinson's disease: α‐Synuclein oligomers and synaptic density as biomarkers in the skin biopsy

Brain Pathology, Volume 34, Issue 6, November 2024.
Searching for a peripheral and quantitative biomarker, this cross‐sectional study investigates an unexplored cohort of GBA1‐PD compared to healthy controls (HC) and idiopathic PD (iPD) cases. We demonstrate that α‐synuclein oligomers, expressed as proximity ligation assay (PLA) score in synaptic terminals of skin biopsy, distinguish both iPD and GBA1 ...
Samanta Mazzetti, Elena Contaldi, Milo Jarno Basellini, Claudia Novello, Alessandra Maria Calogero, Letizia Straniero, Federica Garrì, Valentina Ferri, Daniela Calandrella, Francesca Del Sorbo, Rosanna Asselta, Emanuele Cereda, Graziella Cappelletti, Ioannis Ugo Isaias, Gianni Pezzoli   +14 more
wiley   +1 more source