Results 111 to 120 of about 3,930 (214)

Non‐human primate models of Parkinson's disease: Decoding pathogenesis and advancing therapies

Brain‐X, Volume 3, Issue 2, June 2025.
Parkinson's disease ranks as the second most prevalent neurodegenerative disorder, and there is an urgent need for proper experimental models to enhance our understanding of this complex disease. Non‐human primates exhibit various similarities to humans, particularly in terms of motor skills, cognitive functions, and the complexity of their neural ...
Sihui Zhang, Lin Yuan, Zihan Wu, Xuguang Du, Jacek Z. Kubiak, Feng Yue, Xuejing Yan, Gaolin Jiang, Yongye Huang   +8 more
wiley   +1 more source

Phylogenetic and chronological analysis of proteins causing Alzheimer's, Parkinson's and Huntington's diseases [PDF]

, 2012
It is evident that Neurodegenerative diseases (Alzheimer's, Parkinson's and Huntington's) have many similarities at cellular and molecular level as they carry parallel mechanisms including protein aggregation and inclusion body formation caused by ...
Bilal Hussain, Hina Khalid, Saima Aslam, Shahid Nadeem, Tayyaba Sultana   +4 more
core  

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

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians [PDF]

, 2017
Gaucher disease (GD) is a rare hereditary disorder caused by a deficiency of the lysosomal enzyme β-glucocerebrosidase. Diagnosis is challenging owing to a wide variability in clinical manifestations and severity of symptoms. Many patients may experience
Belmatoug, N, Bembi, B, Deegan, P, Di Rocco, M, Elstein, D, Göker-Alpan, Ö, Hughes, D, Kuter, DJ, Lukina, E, López, JP, Mehta, A, Mengel, E, Nakamura, K, Panahloo, Z, Pastores, GM, Schwartz, I, Serratrice, C, Szer, J, Zimran, A   +18 more
core   +1 more source

Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient‐Centered Approach

JIMD Reports, Volume 66, Issue 2, March 2025.
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.
Eleonore M. Corazolla, Mirjam Langeveld, Marion M. M. G. Brands, Barbara Sjouke, Carla E. M. Hollak   +4 more
wiley   +1 more source

Patterns of prokaryotic lateral gene transfers affecting parasitic microbial eukaryotes [PDF]

, 2013
Background: The influence of lateral gene transfer on gene origins and biology in eukaryotes is poorly understood compared with those of prokaryotes.
Alsmark, Cecilia, Foster, Peter G, Hirt, Robert P, Martin Embley, T, Nakjang, Sirintra, Sicheritz-Pontén, Thomas   +5 more
core   +3 more sources

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

Role of glucosylceramidase in cutaneous melanoma

, 2021
Cutaneous melanoma (CM) is the most severe skin cancer whom the incidence is keeping growing. Despite of the remarkable improvement of CM management thanks to the development of targeted therapies and immune checkpoint inhibitors, the prognostic of CM patients remains still bad. Some alterations in sphingolipid (SL) metabolism have been described in CM
openaire   +1 more source

Defining the organizational structure of dopamine and muscarninic acetylcholine receptors [PDF]

, 2015
No abstract ...
Alvarez-Curto, Elisa, Caltabiano, Gianluigi Caltabiano, Liste, María José Varela, Marsango, Sara, Milligan, Graeme   +4 more
core   +1 more source