Results 111 to 120 of about 15,263 (240)
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 +7 more
wiley +1 more source
Hemorrhagic Aspects of Gaucher Disease
, 2014 Gaucher disease (GD) is an inherited lysosomal disorder, originating from deficient activity of the lysosomal enzyme glucocerebrosidase (GCase). Normally, GCase hydrolyzes glucocerebroside (GC) to glucose and ceramide; however, impaired activity of this ...
Hanna Rsenbaum
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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 +6 more
wiley +1 more source
What hematologist needs to know about Gaucher disease
, 2013 Hematological symptoms can be helpful for the diagnosis of inherited metabolic disorders, including Gaucher disease. Gaucher disease is a progressive, multisystem lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme ...
Machaczka, Maciej; Hematology Center Karolinska, Karolinska University Hospital Huddinge, Head: prof. dr med. Per Ljungman, Stockholm, Sweden; Division of Hematology, Department of Medicine at Huddinge, Karolinska Institutet, Head: prof. dr med. Jan Bolinder, Stockholm, Sweden
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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
Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications
, 2015 BACKGROUND: Type 2 Gaucher disease is a rare and progressive subtype of this lysosomal storage disorder, marked by rapid, early-onset neurodegeneration. Distinguishing type 2 from types 1 and 3 Gaucher disease has remained challenging, due to the lack of
Crumrine, Debra +9 more
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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 +4 more
wiley +1 more source
Imiglucerase in the treatment of Gaucher disease: a history and perspective
, 2012 Patrick B Deegan, Timothy M CoxDepartment of Medicine, University of Cambridge, Lysosomal Disorders Unit, Addenbrooke's NHS Foundation Hospitals Trust, Cambridge, UKAbstract: The scientific and therapeutic development of imiglucerase (Cerezyme ...
Deegan PB, Cox TM
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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 +7 more
wiley +1 more source
Parkinson disease in Gaucher disease
, 2017 Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern.
Espay, Alberto J +5 more
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