Results 41 to 50 of about 3,952,882 (246)

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

open access: yesFEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise   +5 more
wiley   +1 more source

Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy [PDF]

open access: yesРМЖ. Мать и дитя, 2022
N.A. Polyanskaya1, A.A. Gorbunova2, E.B. Pavlinova1, O.A. Savchenko1, I.A. Kirshina1, M.E. Bagaeva3,4, T.V. Strokova3,4 1Omsk State Medical University, Omsk, Russian Federation 2Regional Children’s Clinical Hospital, Omsk, Russian Federation ...
N.A. Polyanskaya   +6 more
doaj  

Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID) [PDF]

open access: yes, 2009
Adenosine deaminase deficiency (ADA) is a rare, inherited disorder of purine metabolism characterized by immunodeficiency, failure to thrive and metabolic abnormalities. A lack of the enzyme ADA allows accumulation of toxic metabolites causing defects of
Claire Booth   +3 more
core  

Enzyme Replacement Therapy

open access: yes, 2018
Enzyme replacement therapy is a therapeutic approach in which the specific enzyme that is absent or inactive in affected individuals is replaced with a functional enzyme molecule derived from biological sources or produced by biotechnology.
Abderrezak Khelfi
core   +1 more source

Smaller is better: nanobodies meet NMR

open access: yesFEBS Letters, EarlyView.
Nanobodies are single‐domain antigen‐binding fragments derived from camelid heavy chain antibodies. Their small size, high stability, and exceptional specificity make nanobodies uniquely useful probes for NMR studies of protein dynamics, transient conformational states, and protein–protein interactions.
Oleg Y. Dmitriev
wiley   +1 more source

Neutralizing anti-drug antibodies in Fabry disease have no obvious clinical impact?

open access: yesOrphanet Journal of Rare Diseases, 2018
Fabry disease (FD) is a rare X-linked disorder caused by a deficiency of lysosomal α-galactosidase A activity. Treatment with recombinant enzyme replacement therapy is available since 2001 and the effects of anti-drug antibodies (ADA) on therapy efficacy
Malte Lenders   +3 more
doaj   +1 more source

Going viral − Virus‐targeting nanobodies for research, diagnostics and therapy

open access: yesFEBS Letters, EarlyView.
The increasing prevalence of viral diseases represents a major threat for global human health. Nanobodies, small binding fragments derived from camelid heavy‐chain antibodies, offer versatile tools for viral research, diagnostics, and antiviral therapy.
Domenic Ebert, Ulrich Rothbauer
wiley   +1 more source

In vitro and in silico modelling of ROS1‐positive non‐small cell lung cancer reveals fusion‐dependent tyrosine kinase inhibitor responses

open access: yesMolecular Oncology, EarlyView.
Drug resistance limits treatment success in a subset of lung cancers driven by ROS1 gene alterations. Using patient‐derived cells and computer simulations, we studied three key mutations and how they affect five targeted drugs. The mutations reduced drug effectiveness in different ways by altering protein structure and behavior.
Farhan Ul Haq   +8 more
wiley   +1 more source

Hormone replacement therapy: perspectives from women, medicine and sociology [PDF]

open access: yes, 1997
Developed on the boundary between medicine and sociology, this thesis develops a critique of the perspectives of these disciplines through analysis of a study of women's perspectives on hormone replacement therapy.
Griffiths, Frances Ellen   +1 more
core  

Quality of Life Assessment after Pancreatic Enzyme Replacement Therapy in Chronic Pancreatitis [PDF]

open access: yes, 2003
GOALS: To evaluate the quality of life (QoL) of patients with chronic pancreatitis before and after pancreatic enzyme replacement therapy in a prospective, multicentre, follow-up ...
László Prónai   +8 more
core   +1 more source

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