Results 81 to 90 of about 5,175,842 (164)

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Clinical History and Burden of Gaucher Disease Type 3: A Cross‐Sectional Multinational Study

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Gaucher disease Type 3 (GD3) is a rare genetic neurodegenerative disorder, characterized by heterogeneity in symptom burden, disease severity, and progression. There is limited evidence on the burden of GD3. This retrospective, cross‐sectional study estimated the burden of illness associated with GD3 using descriptive analyses of clinician ...
Eugen Mengel, Sinziana Stanescu, Alessio Di Fonzo, Aimee Donald, Tanya Collin‐Histed, Laurence Djatche, Idaira Rodriguez Santana, Jagan Mohan Palli, Maria Gabriela Perichon, Ruth Pulikottil‐Jacob, Fatih S. Ezgu   +10 more
wiley   +1 more source

Phagocytosis of Erythrocytes from Gaucher Patients Induces Phenotypic Modifications in Macrophages, Driving Them toward Gaucher Cells

, 2022
Gaucher disease (GD) is caused by glucocerebrosidase deficiency leading to the accumulation of sphingolipids in macrophages named “Gaucher’s Cells”. These cells are characterized by deregulated expression of cell surface markers, abnormal secretion of ...
Lucie Dupuis, Michaël Dussiot, Franco, Mélanie, Le Van Kim, Caroline, Bourdelier, Emmanuelle, Dupuis, Lucie, Arnaud Chêne, Chêne, Arnaud, Caroline Le Van Kim, Emmanuelle Bourdelier, Margaux Chauvet, Mélanie Franco, Dussiot, Michaël, Nadia Belmatoug, Belmatoug, Nadia, Chauvet, Margaux   +15 more
core   +1 more source

Outcome of strabismus surgery in patients of type 3 gaucher’s disease

, 2018
Purpose Surgical correction of esotropia in patients of neuronopathic Gaucher’s disease (GD) type 3 aiming to improve the cosmetic appearance with the evaluation of the success rate, presence of residual angle, or recurrence during the follow-up period ...
Mona A.L Alsayed, Manal A Kasem
core   +1 more source

An Unusual Presentation of Gaucher’s Disease: Aortic Valve Fibrosis in a Patient Homozygous for a Rare G377S Mutation [PDF]

, 2010
Gaucher’s disease (GD) has variable presentations, but cardiac involvement is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying genetic disorder in GD has been well characterized, with almost 300 mutations ...
Kardum-Skelin, Ika, Jelić Puškarić, Biljana, Vrhovac, Radovan, Jakšić, Branimir, Perić, Zinaida, Letilović, Tomislav   +5 more
core   +1 more source

N-2 Alkylated analogues of aza-galactofagomine as potential inhibitors of β-glucosidase [PDF]

Journal of the Serbian Chemical Society
The synthesis of four N-2-alkylated aza-galactofagomine (AGF) analogues was achieved by intermolecular reductive hydrazination or alkylation of suitably protected AGF. The synthesized compounds were evaluated as potential β-glucosidase inhibitors.
Đurković Filip, Zlatović Mario, Sladić Dušan, Novaković Irena, Bihelović Filip, Ferjančić Zorana   +5 more
doaj   +1 more source

Extensive cardiovascular involvement in a young boy with Gaucher's disease: a case report. [PDF]

Eur Heart J Case Rep, 2023
Naderian M, Khederlou H, Hosseinsabet A, Salarifar M.   +3 more
europepmc   +1 more source

Type 3 Gaucher’s disease in a three year old child: saccadic eye movements analysis

, 2005
Gaucher’s disease (GD) is an autosomal-recessive disorder that leads to the storage of sphingolipid material (glucocerebroside) in different peripheral tissues and sometimes in the central nervous system. Among its 3 existing forms, the most frequent non-
ACCARDO, AGOSTINO, B. BEMBI, S. PENSIERO, P. PERISSUTTI   +3 more
core  

Gaucher's Disease in an Adult Female: A Rare Entity. [PDF]

Cureus, 2021
Kannauje PK, Pandit V, Wasnik PN, Gupta AK, Venkatesan N.   +4 more
europepmc   +1 more source

Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease. [PDF]

J Blood Med, 2021
Giraldo P, Andrade-Campos M.
europepmc   +1 more source