Found: 15
Select item for more details and to access through your institution.
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:
- Publication type:
- Article
The PHD Finger of Human UHRF1 Reveals a New Subgroup of Unmethylated Histone H3 Tail Readers.
- Published in:
- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027599
- By:
- 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:
- Publication type:
- Article
Structure and mechanism of human DNA polymerase ?
- Published in:
- 2011
- By:
- Publication type:
- Correction Notice
Structure and mechanism of human DNA polymerase η.
- Published in:
- Nature, 2010, v. 465, n. 7301, p. 1044, doi. 10.1038/nature09196
- By:
- Publication type:
- Article
RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination.
- Published in:
- Nature, 2007, v. 450, n. 7172, p. 1106, doi. 10.1038/nature06431
- By:
- 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:
- Publication type:
- Article
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 12, p. 1074, doi. 10.1093/hmg/ddae051
- By:
- 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:
- Publication type:
- Article
Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 261, doi. 10.1002/jimd.12584
- By:
- 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:
- Publication type:
- Article
Structural basis for the dimerization of Gemin5 and its role in protein recruitment and translation control.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 2, p. 788, doi. 10.1093/nar/gkz1126
- By:
- 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:
- 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:
- 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:
- Publication type:
- Article