Results 91 to 100 of about 5,176,506 (186)

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

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

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  

Gaucher's Disease in Albanian Children: Casuistics and Treatment. [PDF]

Iran J Pediatr, 2011
Objective: Gaucher's disease is a rare genetic disorder that results in the accumulation of cerebrosides in the liver, spleen, kidneys, lungs, brain and bone marrow.
Shehi B, Boçari G, Vyshka G, Xhepa R, Alushani D.   +4 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

Adult-onset neuronopathic form of Gaucher's disease: a case report

, 2003
We report a patient with Gaucher's disease (GD) developing prominent neurological abnormalities in adult life confirming the existence of an adult neuronopathic form of GD.
Guimarães, J., Amaral, O., Sá Miranda, M.C.   +2 more
core   +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

Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease

, 2012
Gaucher's disease is caused by a deficiency of glucocerebrosidase (GBA) and results in the accumulation of glucocerebroside within macrophages. We report on a 33(+2) gestational week premature infant whose family history was significant for a previously ...
Kim, GH, Park, HW, Lee, Y, Lee, BS, Yoo, HW, Kim, EA, Kim, KS   +6 more
core   +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

B cell lymphoma and myeloma in murine Gaucher's disease

, 2013
Multiple myeloma and B cell lymphoma are leading causes of death in Gaucher's disease but the nature of the stimulus driving the often noted clonal expansion of immunoglobulin-secreting B cells and cognate lymphoid malignancy is unknown.
Aerts, J. M. F. G., Karlsson, Stefan, Wang, S. Z., Cox, T. M., Karlsson, Stefan,, Archer, J., Dekker, N., Lund University., Pavlova, E. V.   +8 more
core   +1 more source