Results 81 to 90 of about 133,872 (296)

Enzyme replacement therapy in paediatric patients affected by Anderson-Fabry disease leads to improvement in arterial elasticity, but not normalization

Journal of Pediatric and Neonatal Individualized Medicine, 2017
Introduction: Increase in blood pressure, probably due to an impairment in arterial elasticity, is frequent in patients affected by Anderson-Fabry disease (FD).
Pier Paolo Bassareo, Claudio Barbanti, Andrea Raffaele Marras, Giuseppe Mercuro   +3 more
doaj   +1 more source

Lentiviral vectors for gene therapy of Gaucher disease

, 2015
Gaucher disease (GD), a recessive disorder characterised by hepatosplenomegaly, pancytopenia and skeletal complications, is caused by deficiency of the enzyme glucocerebrosidase (GC).
Aitchison, KL
core  

Enzyme replacement therapy for Pompe disease [PDF]

, 2010
Pompe Disease is a rare genetic lysosomal storage disease resulting from mutations in the gene for acid alpha- glucosidase. Mutations in this gene cause a buildup of glycogen within lysosomes, leading to lysosomal engorgement and a disruption of cellular
Burris, Ryan Jonathan William
core  

Symptomatic increase in intracranial pressure following pancreatic enzyme replacement therapy for cystic fibrosis [PDF]

, 1995
A newly diagnosed 5-month-old infant with cystic fibrosis (CF) developed signs and symptoms of increased intracranial pressure (ICP) within days of starting pancreatic enzyme replacement therapy. Symptoms promptly resolved on two occasions after stopping
Denise Schaffert, Samya Z. Nasr, Nasr, Samya Z., Schaffert, Denise   +3 more
core   +1 more source

One size does not fit all: An in vitro evaluation of the effects of bezafibrate and medroxyprogesterone acetate on human SH‐SY5Y and U‐87 MG cancer cells

FEBS Open Bio, EarlyView.
Drugs previously repurposed to target blood cancers reduced neuroblastoma and glioblastoma cell growth and viability. However, their levels of anticancer activity were different and their clinical application may be problematic due to side effects at effective doses.
Abhishek Kharawatkar, Francesco Michelangeli, Farhat Latif Khanim, Christopher Martin Bunce, William Eustace Basil Johnson   +4 more
wiley   +1 more source

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

, 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, Booth, C, H Bobby Gaspar, Gaspar, HB   +3 more
core  

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

Hypophosphatasia in childhood: Diagnosis to management

Osteoporosis and Sarcopenia
Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Minji Im, Sung Yoon Cho
doaj   +1 more source

Natural Products as Geroprotective Modulators in Diabetic Nephropathy: A Mechanistic Framework Integrating Aging Hallmarks and the AMPK–SIRT1–Nrf2 Axis

Aging and Cancer, EarlyView.
Natural products target the aging kidney in diabetic nephropathy by restoring the AMPK–SIRT1–Nrf2 axis, reducing oxidative stress, inflammation, fibrosis, and cellular senescence while enhancing mitochondrial biogenesis and antioxidant defenses.
Sherif Hamidu, Latif Adams, Eunice Ampem‐Danso, Justice Kumi, Abigail Aning, Fatima Hamidu, Mustapha Abdul Mumin Mohammed, Ayuba Nii Darku Ankrah, Seth Kwabena Amponsah   +8 more
wiley   +1 more source