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Biallelic hypomorphic variants in CAD cause uridine‐responsive macrocytic anaemia with elevated haemoglobin‐A2.
Published in:
British Journal of Haematology, 2024, v. 204, n. 3, p. 1067, doi. 10.1111/bjh.19215
By:
- Steinberg‐Shemer, Orna;
- Yacobovich, Joanne;
- Noy‐Lotan, Sharon;
- Dgany, Orly;
- Krasnov, Tanya;
- Barg, Assaf;
- Landau, Yuval E.;
- Kneller, Katya;
- Somech, Raz;
- Gilad, Oded;
- Brik Simon, Dafna;
- Orenstein, Naama;
- Izraeli, Shai;
- del Caño‐Ochoa, Francisco;
- Tamary, Hannah;
- Ramón‐Maiques, Santiago
Publication type:
Article
A Tailored Strategy to Crosslink the Aspartate Transcarbamoylase Domain of the Multienzymatic Protein CAD.
Published in:
Molecules, 2023, v. 28, n. 2, p. 660, doi. 10.3390/molecules28020660
By:
- del Caño-Ochoa, Francisco;
- Rubio-del-Campo, Antonio;
- Ramón-Maiques, Santiago
Publication type:
Article
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
Published in:
Life Science Alliance, 2022, v. 5, n. 7, p. 1, doi. 10.26508/lsa.202201403
By:
- Francisco-Velilla, Rosario;
- Embarc-Buh, Azman;
- del Caño-Ochoa, Francisco;
- Abellan, Salvador;
- Vilar, Marçal;
- Alvarez, Sara;
- Fernandez-Jaen, Alberto;
- Kour, Sukhleen;
- Rajan, Deepa S.;
- Pandey, Udai Bhan;
- Ramón-Maiques, Santiago;
- Martinez-Salas, Encarnacion
Publication type:
Article
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1170, doi. 10.1002/jimd.12667
By:
- del Caño‐Ochoa, Francisco;
- Ng, Bobby G.;
- Rubio‐del‐Campo, Antonio;
- Mahajan, Sonal;
- Wilson, Matthew P.;
- Vilar, Marçal;
- Rymen, Daisy;
- Sánchez‐Pintos, Paula;
- Kenny, Joanna;
- Ley Martos, Myriam;
- Campos, Teresa;
- Wortmann, Saskia B.;
- Freeze, Hudson H.;
- Ramón‐Maiques, Santiago
Publication type:
Article
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 318, doi. 10.1002/jimd.12461
By:
- Briso‐Montiano, Alvaro;
- Del Caño‐Ochoa, Francisco;
- Vilas, Alicia;
- Velázquez‐Campoy, Adrián;
- Rubio, Vicente;
- Pérez, Belén;
- Ramón‐Maiques, Santiago
Publication type:
Article
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Published in:
Human Mutation, 2022, v. 43, n. 10, p. 1430, doi. 10.1002/humu.24431
By:
- Segovia‐Falquina, Cristina;
- Vilas, Alicia;
- Leal, Fátima;
- del Caño‐Ochoa, Francisco;
- Kirk, Edwin P.;
- Ugarte, Magdalena;
- Ramón‐Maiques, Santiago;
- Gámez, Alejandra;
- Pérez, Belén
Publication type:
Article
Mechanisms of feedback inhibition and sequential firing of active sites in plant aspartate transcarbamoylase.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21165-9
By:
- Bellin, Leo;
- Del Caño-Ochoa, Francisco;
- Velázquez-Campoy, Adrián;
- Möhlmann, Torsten;
- Ramón-Maiques, Santiago
Publication type:
Article
Deciphering CAD: Structure and function of a mega‐enzymatic pyrimidine factory in health and disease.
Published in:
Protein Science: A Publication of the Protein Society, 2021, v. 30, n. 10, p. 1995, doi. 10.1002/pro.4158
By:
- del Caño‐Ochoa, Francisco;
- Ramón‐Maiques, Santiago
Publication type:
Article

Found: 8