Results 101 to 110 of about 2,490 (187)

Inhibition of PLA2G15 Alleviates Palmitic Acid‐Induced Lysosomal Membrane Permeabilization in Human Nucleus Pulposus Cells During Intervertebral Disc Degeneration

JOR SPINE, Volume 9, Issue 2, June 2026.
LMP is responsible for lysosomal dysfunction in IDD. The lipid composition changes in the lysosomal membrane, mediated by PLA2G15, are the cause of LMP. The C/EBPα significantly promotes PLA2G15 expression under PA overload stress. Inhibition of PLA2G15 alleviates PA‐induced LMP by inhibiting the hydrolysis of lysosomal membrane phospholipids. ABSTRACT
Liqun Duan, Jiang Jiang, Shuangshuang Tu, Chuanfu Li, Yijun Dong, Yongjin Li, Wenzhi Zhang, Xi Chen   +7 more
wiley   +1 more source

Intrinsic conformational equilibria position arrestin‐2 for activation

Protein Science, Volume 35, Issue 6, June 2026.
Abstract Arrestins regulate G protein‐coupled receptor (GPCR) signaling by undergoing large‐scale conformational rearrangements, yet the solution‐state equilibria that underlie arrestin pre‐activation remain poorly defined. While prior studies identified slow conformational exchange at the interdomain interface, these minor states could not be ...
Tucker J. Shriver, Kerem Kahraman, Mingzhe Pan, Çağdaş Dağ, Marco Tonelli, Scott A. Robson, Joshua J. Ziarek   +6 more
wiley   +1 more source

ERK autoinhibition mechanism informs a drug combination strategy

Protein Science, Volume 35, Issue 6, June 2026.
Abstract ERK is a key regulator in the MAPK pathway, controlling essential cell processes through dual‐phosphorylation‐based activation. We investigate the conformational equilibrium between inactive and active ERK states, which is controlled allosterically by its structurally unique C‐terminal L16 segment.
Clil Regev, Hyunbum Jang, Ruth Nussinov
wiley   +1 more source

Gaucher’s disease and liver involvement: A review and our experience

, 2019
Background: This article reviews current knowledge of Gaucher’s disease (GD) and liver involvement and reports our experience: how many patients with chronic liver disease of unknown origin could be affected by Gaucher’s disease. Patients and
Mario Correale, Vitantonio Guglielmi*, Gioacchino Leandro   +2 more
core   +1 more source

Impact of Gba2 on neuronopathic Gaucher's disease and α-synuclein accumulation in medaka (Oryzias latipes). [PDF]

Mol Brain, 2021
Nakanishi E, Uemura N, Akiyama H, Kinoshita M, Masanori S, Taruno Y, Yamakado H, Matsuzawa SI, Takeda S, Hirabayashi Y, Takahashi R.   +10 more
europepmc   +1 more source

Wearable Rehabilitation Devices Using Textile‐Integrated Triboelectric and Piezoelectric Nanogenerators

Small Structures, Volume 7, Issue 6, June 2026.
The functional landscape of textile‐integrated triboelectric and piezoelectric nanogenerators within rehabilitation systems highlights three interlinked domains: self‐powered sensing, bioelectrical stimulation, and integrated smart rehabilitation platforms.
Kitan Ojo, Siva Kumar Reddy, Evgeniya Kovalska, Saverio Russo, Monica F. Craciun   +4 more
wiley   +1 more source

Gaucher's disease: a case report

, 2017
Gaucher's disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs.
Rameshwar Ninama, Bhupesh Jain, Jain, Bhupesh, Ninama, Rameshwar, Goyal, Suresh, Singla, Sanjay, Sanjay Singla, Suresh Goyal   +7 more
core   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

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

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