Results 1 to 10 of about 6,449 (175)

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway [PDF]

Frontiers in Immunology
IntroductionGlycosylation is a post-translational modification that plays a crucial role in immune system activity. Phosphomannomutase 2-Congenital Disorder of Glycosylation (PMM2-CDG) is a rare genetic disease affecting glycosylation with a multi ...
Carlota Pascoal, Carlota Pascoal, Carlota Pascoal, Pedro Granjo, Pedro Granjo, Pedro Granjo, Rebeka Kodríková, Marta Falcão, Marta Falcão, Marta Falcão, Ana C. Santos, Ana C. Santos, Ana C. Santos, Inês Teodoro, Inês Teodoro, Inês Teodoro, Zuzana Pakanová, Marek Nemčovič, Jan Mucha, Margarida Castro-Caldas, Margarida Castro-Caldas, Ana R. Grosso, Ana R. Grosso, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Paula A. Videira, Paula A. Videira, Paula A. Videira   +28 more
doaj   +2 more sources

Are viral vector-mediated therapies compatible with aberrant glycosylation? [PDF]

Molecular Therapy: Methods & Clinical Development
The ability of adeno-associated viruses (AAVs) to transduce host cells relies on interactions with glycan moieties on the cellular surface.
I.J.J. Muffels, R. Budhraja, S. Radenkovic, R. Shah, A. Pandey, E. Morava, T. Kozicz   +6 more
doaj   +2 more sources

Formation and Performance Evaluation of Colloidal Dispersion Gels Prepared Using Sulfonated Polyacrylamides and Chromium (III) Acetate [PDF]

Journal of Chemical and Petroleum Engineering, 2021
Using a sulfonated polyacrylamide (SPAM) and Cr3+, a new colloidal dispersion gel (CDG) was prepared. The viscosity of the CDG samples in different crosslinker concentrations and brine compositions was measured.
Reza Rahimi, Amir Hossein Saeedi Dehaghani   +1 more
doaj   +1 more source

Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases

Frontiers in Molecular Biosciences, 2021
More than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million people, out of which only 5% have treatment. The development of novel genome sequencing techniques has accelerated the discovery and diagnosis in RDs.
Sandra Brasil, Sandra Brasil, Cátia José Neves, Cátia José Neves, Tatiana Rijoff, Tatiana Rijoff, Marta Falcão, Gonçalo Valadão, Gonçalo Valadão, Gonçalo Valadão, Paula A. Videira, Paula A. Videira, Paula A. Videira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira   +14 more
doaj   +1 more source

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Orphanet Journal of Rare Diseases, 2022
Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences.
C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros, V. dos Reis Ferreira   +13 more
doaj   +1 more source

Congenital disorders of glycosylation (CDG): state of the art in 2022

Orphanet Journal of Rare Diseases, 2023
Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-paced and ...
Rita Francisco, Sandra Brasil, Joana Poejo, Jaak Jaeken, Carlota Pascoal, Paula A. Videira, Vanessa dos Reis Ferreira   +6 more
doaj   +1 more source

Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective

Orphanet Journal of Rare Diseases, 2022
Background Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the continuous efforts of the CDG medical ...
Maria Monticelli, Rita Francisco, Sandra Brasil, Dorinda Marques-da-Silva, Tatiana Rijoff, Carlota Pascoal, Jaak Jaeken, Paula A. Videira, Vanessa dos Reis Ferreira   +8 more
doaj   +1 more source

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)

Orphanet Journal of Rare Diseases, 2022
Background Congenital Disorders of Glycosylation (CDG) are a complex family of rare metabolic diseases. Robust clinical data collection faces many hurdles, preventing full CDG biological and clinical comprehension.
Rita Francisco, Sandra Brasil, Carlota Pascoal, Jaak Jaeken, Merell Liddle, Paula A. Videira, Vanessa dos Reis Ferreira   +6 more
doaj   +1 more source

CDG – an update [PDF]

Journal of Inherited Metabolic Disease, 2011
As of 2011, we know more than 3000 inherited diseases. Among these genetic entities, congenital disorders of glycosylation is one of the most rapidly growing groups, with actually about 50 subtypes known, positioning CDG in the focus of attention of both clinicians and basic scientists (Table ​(Table11).
Morava, E., Lefeber, D.J.
openaire   +3 more sources

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

Diagnostics, 2021
Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications ...
Patryk Lipiński, Karolina M. Stępień, Elżbieta Ciara, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek   +4 more
doaj   +1 more source