Results 51 to 60 of about 29,070 (238)

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source

Basal ryanodine receptor activity suppresses autophagic flux [PDF]

, 2017
The inositol 1,4,5-trisphosphate receptors (IP3Rs) and intracellular Ca2+ signaling are critically involved in regulating different steps of autophagy, a lysosomal degradation pathway.
Bannai, Hiroko, Bootman, Martin D., Bultynck, Geert, Martinet, Wim, Mikoshiba, Katsuhiko, Nadif Kasri, Nael, Parys, Jan B., Pintelon, Isabel, Vervliet, Tim, Welkenhuyzen, Kirsten   +9 more
core   +6 more sources

Gaucher Disease pada Bayi: Kasus Jarang

Majalah Kedokteran Andalas, 2023
Pendahuluan: Gaucher disease (GD) adalah penyakit genetik yang ditandai dengan akumulasi substansi lemak di dalam sel atau organ-organ tertentu. Penyakit ini disebabkan oleh mutasi gen glucosidase beta acid (GBA) yang mengakibatkan defisiensi enzim ...
Rikarni Rikarni, Harika Putra
doaj   +1 more source

A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders

Clinical Pharmacology &Therapeutics, EarlyView.
Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel, Lars M.G. Smits, Philip H.C. Kremer, Geert Jan Groeneveld   +3 more
wiley   +1 more source

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]

, 2019
Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie, Do, Mai Anh, Levy, Daniel, Lu, Biao, Marriott, Gerard   +4 more
core   +1 more source

Fibromyalgia and Gaucher's disease [PDF]

QJM: An International Journal of Medicine, 2005
Patients with symptomatic Gaucher's disease sometimes have non-specific symptoms (such as general malaise with widespread musculoskeletal pains) that respond poorly to enzyme replacement treatment. These may indicate fibromyalgia syndrome; if so, other therapeutic options might be more appropriate.To identify patients with Gaucher's disease for whom ...
A, Brautbar, D, Elstein, B, Pines, N, Krienen, J, Hemmer, D, Buskila, A, Zimran   +6 more
openaire   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

Neurobiology of Disease, 2005
Gaucher disease is an inherited metabolic disorder caused by defective activity of the lysosomal enzyme, glucocerebrosidase, resulting in accumulation of the lipids, glucosylceramide (GlcCer), and glucosylsphingosine (GlcSph).
Dori Pelled, Selena Trajkovic-Bodennec, Emyr Lloyd-Evans, Ellen Sidransky, Raphael Schiffmann, Anthony H. Futerman   +5 more
doaj   +1 more source

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. [PDF]

, 2019
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Arrant, Andrew E, Boyle, Nicholas R, Grinberg, Lea T, Hoffmann, Madelyn Q, Kashyap, Shreya N, Miller, Bruce L, Murchison, Charles F, Nana, Alissa L, Ramos, Eliana Marisa, Roberson, Erik D, Roth, Jonathan R, Seeley, William W, Spina, Salvatore   +12 more
core  

Gaucher disease treatment: a Brazilian consensus [PDF]

, 2003
Gaucher disease is one of the inborn errors of metabolism from lysossomal storage diseases and the most frequent of this group. It iss an autosomal recessive disease with reoccurrence risk of 25% in each pregnancy of hetrozygotes parents.
Aranda, Paulo C., Bortolheiro, Teresa C., Kerstenetzky, Marcelo S., Lobo, Clarisse L., Martins, Ana Maria, Montoril, Maria F. P., Mota, Ronald M. V., Paula, Maria T. M., Pianovsky, Mara A. D., Pires, Ricardo F., Porta, Gilda, Semionato Filho, José, Sobreira, Elisa A. P., Valadares, Eugenia R.   +13 more
core   +3 more sources