Results 51 to 60 of about 940,251 (149)

Lysosomal Expression Profile in Plasma Associates with Disease Severity in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is a clinically and biologically heterogeneous neurodegenerative disorder, driven by multiple mechanisms among which are lysosomal and mitochondrial dysfunction. Here, we explored blood‐based lysosomal and mitochondrial profiles in relation to PD diagnosis and severity.
Janna van Wetering, Manon M. van Ingen, Evelien Timmermans, Sjors G.J.G. in't Veld, Henk W. Berendse, Charlotte E. Teunissen, Wilma D.J. van de Berg   +6 more
wiley   +1 more source

Emollient Formulations and Skin Barrier Practices in the Context of Eczema and Food Allergy Prevention

Allergy, EarlyView.
ABSTRACT The skin is far from a passive shield; it functions as a dynamic “living barrier” whose structural and immunological integrity is paramount in preventing atopic dermatitis (AD) and the subsequent progression of the atopic march toward food allergy (FA).
Klaudia Ryczaj, Donald Y. M. Leung, Carina Venter, Barbara Sozańska, Helen A. Brough   +4 more
wiley   +1 more source

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

Process for preparing exosome loading β-glucocerebrosidase, and pharmaceutical composition for use in preventing and treating Gaucher Disease containing the same as an active ingredient

, 2020
본 발명은 GBA(β-glucocerebrosidase) 단백질을 포함하는 엑소솜(GBA:EXPLOR)을 대량으로 제조하는 방법, 상기 엑소솜 제조에 사용될 수 있는 엑소솜 제조용 벡터, 상기 방법으로 제조된 GBA(β-glucocerebrosidase) 단백질을 포함하는 엑소솜 및 이를 유효성분으로 함유하는 고셔병 치료용 약학적 조성물에 관한 것이다.
류승욱, 최철희, 최경선, 임남빈, 최호준   +4 more
core   +1 more source

Neurodegenerative Diseases: Epidemiology, Risk Factors, Classification, Pathophysiology, Clinical Features, Diagnosis, and Therapeutic Strategies

MedComm, Volume 7, Issue 11, November 2026.
Neurodegenerative diseases share convergent risk architectures and pathological mechanisms, yet diverge in selective vulnerability, clinical presentation, and therapeutic responsiveness. This review integrates cross‐disease epidemiology, pathophysiology, diagnosis, and treatment, highlighting the transition from symptomatic care toward biomarker‐guided
Zimeng He, Jingjing Zeng, Guoqing Wang, Yuxin Li, Feng Zhang   +4 more
wiley   +1 more source

Gastric Cancer: Epidemiology, Risk Factors, Pathogenesis, Clinical Features, Diagnosis, and Management

MedComm, Volume 7, Issue 11, November 2026.
This comprehensive review summarizes gastric cancer epidemiology, multifactorial risk factors (like infectious, dietary, genetic), pathogenesis such as precancerous evolution, molecular alterations, and a focus on the bidirectional interactions between gastric cancer cells and macrophages in the tumor microenvironment.
Yixuan Xin, Xingya Wang, Yangtao Wu, Qian Liu, Qian Ren, Hui Wang, Jingbo Zhai   +6 more
wiley   +1 more source

Mutant glucocerebrosidase stabilization with 1-deoxynojirimycin

, 2019
β-Glucocerebrosidase is a lysosomal enzyme responsible for the degradation of glucosylceramide, a glycosphingolipid that accumulates in the lysosomes. Mutations in the β-glucocerebrosidase gene result in reduced activity or misfolding and degradation of ...
Seraste, Erkka
core   +1 more source

Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report

Frontiers in Pediatrics
A 2-year-old patient was admitted to our hospital with hepatosplenomegaly as the prominent clinical feature. Peripheral blood analysis during hospitalization revealed trilineage cytopenia.
Mengting Ma, Nan Wu, Jie Feng, Xu Sang, Feixiang Duan, Congcong Li, Qiang Zhang   +6 more
doaj   +1 more source

Recombination between the gene and pseudogene for glucocerebrosidase as a mechanism of mutation generation in Gaucher disease [PDF]

, 2015
Gaucher disease is an autosomal recessive disorder caused by the deficiency of β-glucocerebrosidase. Some Gaucher patients carry in their β-glucocerebrosidase genes complex mutations which apparently arose by a recombination with the non-functional β ...
Peková, Barbora
core  

Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity

, 2017
Correction for ‘Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity’ by Fabien Stauffert et al., Org. Biomol. Chem., 2017, 15, 3681–3705.
Fabien Stauffert, Lluïsa Vilageliu, Philippe Compain, Irene Mavridou, Jenny Serra-Vinardell, Marta Gómez-Grau, Daniel Grinberg, Josefina Casas, Helen Michelakakis, Antonio Delgado, Anne Bodlenner   +10 more
core   +1 more source