Results 61 to 70 of about 7,167 (179)

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

Gaucher disease and the synucleinopathies: refining the relationship

Orphanet Journal of Rare Diseases, 2012
Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological
Campbell Tessa N, Choy Francis YM
doaj   +1 more source

Mitophagy in skeletal muscle: Impact of ageing, exercise and disuse

Experimental Physiology, EarlyView.
Abstract Skeletal muscle plays an important role in whole‐body health, quality of life and regulation of metabolism. The maintenance of a healthy mitochondrial pool is imperative for the preservation of skeletal muscle quality and is mediated through mitochondrial quality control consisting of mitochondrial turnover mediated by a balance between ...
Anastasiya Kuznyetsova, David A. Hood
wiley   +1 more source

Glucocerebrosidase deficits in sporadic Parkinson disease [PDF]

Autophagy, 2014
Parkinson disease (PD) is a progressive neurodegenerative movement disorder characterized pathologically by abnormal SNCA/α-synuclein protein inclusions in neurons. Impaired lysosomal autophagic degradation of cellular proteins is implicated in PD pathogenesis and progression.
Murphy, Karen E, Halliday, Glenda
openaire   +3 more sources

Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease

American Journal of Hematology, Volume 101, Issue 9, Page 2197-2213, September 2026.
ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain, Noffar Bar, Lilu Guo, Katherine Klinger, Punita Gupta, Atta Ur Rahman, Ruhua Yang, Yanhong Deng, Natalia Neparidze, Shiny Nair, Pramod K. Mistry   +10 more
wiley   +1 more source

The Exosomal/Total α-Synuclein Ratio in Plasma Is Associated With Glucocerebrosidase Activity and Correlates With Measures of Disease Severity in PD Patients

Frontiers in Cellular Neuroscience, 2018
Intensive research efforts in the field of Parkinson’s disease (PD) are focusing on identifying reliable biomarkers which possibly help physicians in predicting disease onset, diagnosis, and progression as well as evaluating the response to disease ...
Silvia Cerri, Cristina Ghezzi, Maria Sampieri, Francesca Siani, Micol Avenali, Micol Avenali, Gianluca Dornini, Roberta Zangaglia, Brigida Minafra, Fabio Blandini   +9 more
doaj   +1 more source

Characterization of Adult Patients With Neurometabolic Disorders: A Cross‐Sectional Study at a Tertiary Neurology Center in Sweden

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann   +2 more
wiley   +1 more source

Modeling Parkinson’s Disease in Drosophila: What Have We Learned for Dominant Traits?

Frontiers in Neurology, 2018
Parkinson’s disease (PD) is recognized as the second most common neurodegenerative disorder after Alzheimer’s disease. Unfortunately, there is no cure or proven disease modifying therapy for PD.
Yulan Xiong, Jianzhong Yu
doaj   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, Volume 16, Issue 8, Page 1563-1592, August 2026.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Epigenetic Mechanisms Underlying Cognitive Dysfunction in Parkinson's Disease: Current Evidence and Future Prospects

Brain and Behavior, Volume 16, Issue 8, August 2026.
Epigenetic mechanismsincluding DNA methylation, histone modifications, and microRNA (miRNA) regulationmodulate gene expression without altering the DNA sequence and are increasingly implicated in the cognitive impairment associated with Parkinson's disease (PD). Environmental and molecular factors influence these epigenetic pathways, leading to altered
Fatemeh Hasani, Mohammad Ebrahim Kherad, Mohammad Sharifi Sarasyabi, Kimia Jazi, Ali Ashkbari, Payam Ahmadi, Hadise Heidarpour, Mahdi Masrour, Sina Khamaki, Rahem Rahmati, Andrei Surguchov   +10 more
wiley   +1 more source