Results 121 to 130 of about 460,260 (336)

Genetic variants associated with Fabry disease progression despite enzyme replacement therapy

OncoTarget, 2017
Enzyme replacement therapy (ERT) has been widely used for the treatment of Fabry disease, a rare X-linked recessive disorder due to absent or reduced activity of lysosomal enzyme α-galactosidase A.
F. Scionti, M. T. Di Martino, S. Sestito, A. Nicoletti, F. Falvo, K. Roppa, M. Arbitrio, P. Guzzi, Giuseppe Agapito, A. Pisani, E. Riccio, D. Concolino, L. Pensabene   +12 more
semanticscholar   +1 more source

Hydrostatic pressure activates HIF‐1α via β‐catenin to promote stemness in breast cancer cells

FEBS Open Bio, EarlyView.
To mimic the elevated intestinal fluid pressure in breast cancers, we loaded human breast cancer cells (MCF‐7, MDA‐MB‐453, and BT‐474) to 50 mmHg hydrostatic pressure. Hydrostatic pressure exposure upregulated HIF‐1α and induced stemness in MCF‐7 and BT‐474 cells.
Da Zhai, Yong Xu, Jingjing Ma, Ratchanee Duangrat, Chen Yan, Jingyan Liang, Hua Wei, Bin Jiang, Tao‐Sheng Li   +8 more
wiley   +1 more source

The crystal structure of the Borrelia burgdorferi nicotinamidase BBE22 resolves a long‐standing annotation error

FEBS Open Bio, EarlyView.
The crystal structure of Borrelia burgdorferi nicotinamidase (PncA/BBE22) reveals the correct full‐length protein initiated from a non‐canonical AUU start codon. The structure validates previous biochemical findings and resolves a long‐standing annotation error, demonstrating that the truncated database sequence is structurally incompatible with the ...
Kalvis Brangulis
wiley   +1 more source

Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.

Molecular Therapy, 2017
Classical homocystinuria (HCU) is the most common inherited disorder of sulfur amino acid metabolism caused by deficiency in cystathionine beta-synthase (CBS) activity and characterized by severe elevation of homocysteine in blood and tissues.
T. Majtan, Wendell Jones, J. Krijt, Insun Park, W. Kruger, V. Kožich, S. Bassnett, Erez M. Bublil, J. Kraus   +8 more
semanticscholar   +1 more source

Enzyme Replacement Therapy in Patients with Fabry's Disease [PDF]

Journal of International Medical Research, 2007
Fabry's disease, a disorder affecting the gene for the lysosomal enzyme α-galactosidase A (α-GAL A), can cause accumulation of globotriaosylceramide (GL-3) in the vascular endothelial cells. Symptoms include pain, angiokeratoma, corneal clouding, and damage to the heart and kidneys. Human recombinant α-GAL A for use as an enzyme replacement therapy was
openaire   +2 more sources

Exocrine Pancreatic Insufficiency in Diabetes Mellitus: Incidence, Pathogenesis, Diagnosis and Treatment

Gastroenterologìa, 2015
The article deals with exocrine pancreatic insufficiency (EPI), which is being detected in a significant number (30–50 %) of patients with diabetes mellitus (DM) type I and II and could potentially affect the compensation of DM.
S.M. Tkach
doaj   +1 more source

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy

Journal of Medical Genetics, 2017
Background Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation.
Sun‐Hee Heo, Eungu Kang, Yoon-Myung Kim, H. Go, Kyungeun Kim, Jae Y Jung, Min-Ji Kang, Gu-Hwan Kim, Jae‐Min Kim, I. Choi, Jin-Ho Choi, Sung-Chul Jung, R. Desnick, H. Yoo, B. Lee   +14 more
semanticscholar   +1 more source

Importin 7 mediates the nuclear import of HIV‐1 integrase via a specific interacting interface

FEBS Open Bio, EarlyView.
HIV‐1 integrase enables viral DNA integration into the host genome. By binding to the core domain of the host protein Importin 7 via its C‐terminal domain, the integrase is transported across the nuclear membrane into the nucleus, where integration of the viral genome into host DNA takes place. This translocation is a critical step for subsequent viral
Juana Bana, Avigail Yariv, Tal Oppenheim, Hadar Amartely, Dana Reichmann, Oded Livnah   +5 more
wiley   +1 more source

EXPERIENCE OF IMPLEMENTING NEW TECHNOLOGY TREATMENT OF CHILDREN WITH MPS IN THE RUSSIAN PEDIATRIC PRACTICE

Педиатрическая фармакология, 2011
The paper is devoted to one of the rare genetically determined diseases — mucopolysaccharidosis. Despite the great achievement of science — the development of the pathogenetic enzyme replacement therapy, many challenges remain.
A.A. Baranov, L.S. Namazova-Baranova, A.K. Gevorkyan, V.M. Krasnov, L.M. Kuzenkova, G.A. Kashkaradze, N.D. Vashakmadze, T.V. Podkletnova   +7 more
doaj   +2 more sources

Identification of (20R)‐protopanaxadiol from Panax ginseng as a novel anti‐SARS‐CoV‐2 compound

FEBS Open Bio, EarlyView.
We established a noninfectious BAC‐based SARS‐CoV‐2 replicon that enables antiviral screening under BSL‐2 conditions. Using this platform, we screened 373 food‐derived compounds and identified (20R)‐protopanaxadiol from Panax ginseng as a novel inhibitor of SARS‐CoV‐2 RNA replication, highlighting the value of safe replicon systems for antiviral ...
Midori Takeda, Natsue Maezono, Rina Uchikoshi, Nobuyuki Kato, Masanori Ikeda   +4 more
wiley   +1 more source