Results 71 to 80 of about 2,332 (156)

A novel allosteric GCase modulator prevents Tau accumulation in GBA1 WT and GBA1 L444P/L444P cellular models

Scientific Reports
A slow decline in the autophagy-lysosomal pathway is a hallmark of the normal aging brain. Yet, an acceleration of this cellular function may propel neurodegenerative events. In fact, mutations in genes associated with the autophagy-lysosomal pathway can
Matteo Ciccaldo, Natàlia Pérez-Carmona, Ester Piovesana, Sara Cano-Crespo, Ana Ruano, Aida Delgado, Ilaria Fregno, Beatriz Calvo-Flores Guzmán, Manolo Bellotto, Maurizio Molinari, Joanne Taylor, Stéphanie Papin, Ana María García-Collazo, Paolo Paganetti   +13 more
doaj   +1 more source

Tuberculous sacroiliitis in a patient with Gaucher disease

Терапевтический архив, 2013
Gaucher disease (GD) is an inherited enzymatic defect resulting from a deficiency of acid Β-glucosidase, a lysosomal enzyme involved in the degradation of cell metabolic products. The major clinical manifestations of GD are hepatosplenomegaly, cytopenia,
E A Lukina, V E Mamonov, K A Lukina, V A Khomenko, M M Pisetskiĭ, G A Iatsyk   +5 more
doaj  

Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease. [PDF]

Front Med (Lausanne), 2023
Valero-Tena E, Roca-Espiau M, Verdú-Díaz J, Diaz-Manera J, Andrade-Campos M, Giraldo P.   +5 more
europepmc   +1 more source

GAUCHER'S DISEASE [PDF]

Medical Journal Armed Forces India, 1999
C, Vidyashankar, R K, Sharma, S S, Bhatia, S C, Sharma, D, Ranganathan   +4 more
openaire   +2 more sources

Aseptic necrosis of the femoral head after pregnancy: a case report

The Pan African Medical Journal, 2016
A documented case of beginning aseptic necrosis of the femoral head associated with pregnancy together with a review of the literature about this rare complication of pregnancy is presented.
Kawtar Nassar, Wafae Rachidi, Saadia Janani, Ouafa Mkinsi   +3 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

Targeted Enzymatic VLP-Nanoreactors with β-Glucocerebrosidase Activity as Potential Enzyme Replacement Therapy for Gaucher's Disease. [PDF]

ChemMedChem, 2022
Chauhan K, Olivares-Medina CN, Villagrana-Escareño MV, Juárez-Moreno K, Cadena-Nava RD, Rodríguez-Hernández AG, Vazquez-Duhalt R.   +6 more
europepmc   +1 more source

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

Lipid-mimicking phosphorus-based glycosidase inactivators as pharmacological chaperones for the treatment of Gaucher's disease. [PDF]

Chem Sci, 2021
Scherer M, Santana AG, Robinson K, Zhou S, Overkleeft HS, Clarke L, Withers SG.   +6 more
europepmc   +1 more source

Women with Gaucher Disease

Biomedicines
Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impact on the different life stages of women with this disease. Among other alterations, a delay in menarche
Maria del Mar Meijon-Ortigueira, Isabel Solares, Cecilia Muñoz-Delgado, Sinziana Stanescu, Marta Morado, Cristina Pascual-Izquierdo, Lucía Villalon Blanco, Amaya Belanger Quintana, Covadonga Pérez Menéndez-Conde, Montserrat Morales-Conejo, Jesús Villarrubia-Espinosa   +10 more
openaire   +12 more sources