Results 81 to 90 of about 3,547,362 (239)

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report

Journal of Medical Case Reports
Background Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction.
Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta   +6 more
doaj   +1 more source

The VHL tumor suppressor at the crossroad of protein folding, aggregation, and cancer

Molecular Oncology, EarlyView.
Mutations, environmental stress, and chaperone dysfunction can destabilize pVHL, promoting its conversion from the native folded state into amyloid‐like assemblies. This transition may contribute to protein storage, cell dormancy, survival, and drug resistance.
Lara Abad, Silvio Carlo Ermanno Tosatto, Emanuela Leonardi   +2 more
wiley   +1 more source

p190A/ARHGAP35 and p190B/ARHGAP5 proteins in endometrial cancer: a novel cancer‐relevant paralog interplay

Molecular Oncology, EarlyView.
This study identifies ARHGAP5, in addition to the frequently mutated ARHGAP35, as significantly mutated in endometrial cancer. Mutations in both genes co‐occur and are associated with their correlated downregulation. Functional CRISPR studies show that both paralogs regulate similar pathways, including actin cytoskeleton organization.
Mathilde Pinault, Capucine Heraud, Mélissa Correia de Oliveira, Véronique Neaud, Valérie Valesco, Valérie Prouzet‐Mauleon, Béatrice Turcq, Jean‐William Dupuy, Anne‐Aurélie Raymond, Sabrina Croce, Frédéric Saltel, Valérie Lagrée, Violaine Moreau   +12 more
wiley   +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

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

, 2014
Enzyme replacement therapy is currently the only approved treatment for Pompe disease, due to acid α-glucosidase deficiency. Clinical efficacy of this approach is variable, and more effective therapies are needed.
Della Casa R, RAVAGLIA, SABRINA MARIA, DELLA CASA, ROBERTO, Ombrone D, DE FILIPPI, PAOLA, Porto C, DANESINO, CESARE, Ravaglia S, PARENTI, GIANCARLO, Fecarotta S, ANDRIA, GENEROSO, FECAROTTA, SIMONA, la Marca G, ROMANO, ALFONSO, Pichiecchio A, MOLLICA, CARMINE, Donati MA, Andria G., ASCIONE, SERENA, Rossi B, Parenti G, Donati, MA, Rosa M, PORTO, CATERINA, De Filippi P, Morandi LO, Nusco E, Ascione S, Romano A, Danesino C, Mollica C, Agovino T, Sacchini M, Pasanisi MB   +33 more
core   +1 more source

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

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

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

Updated Evaluation of Agalsidase Alfa Enzyme Replacement Therapy for Patients with Fabry Disease: Insights from Real-World Data [PDF]

Sandro Feriozzi,1 Cristina Chimenti,2 Ricardo Claudio Reisin3 1Department of Nephrology and Dialysis Unit, Belcolle Hospital Viterbo, Italy; 2Department of Clinical Sciences, Internal Medicine, Anesthesiology and Cardiovascular Sciences, La Sapienza ...
Feriozzi S, Reisin RC, Chimenti C
core