Associated Papers
Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.
Živković JM et al.
Dna and Cell Biology, 2025
A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family.
Yang Y et al.
Metabolic Brain Disease, 2021
Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome.
Shaik NA et al.
Journal of Biomolecular Structure & Dynamics, 2020
Structural Characterization of Carbonic Anhydrase VIII and Effects of Missense Single Nucleotide Variations to Protein Structure and Function.
Sanyanga TA et al.
International Journal of Molecular Sciences, 2020
Mechanism of Action of Non-Synonymous Single Nucleotide Variations Associated with α-Carbonic Anhydrase II Deficiency.
Sanyanga TA et al.
Molecules (basel, Switzerland), 2019
Carbonic Anhydrase II Deficiency in a Saudi Woman.
Alhuzaim ON et al.
Clinical Medicine Insights. Case Reports, 2015
Impact of the 237th residue on the folding of human carbonic anhydrase II.
Wu MJ et al.
International Journal of Molecular Sciences, 2011
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
Vivante A et al.
Nephron. Physiology, 2011
Small-molecule suppression of misfolding of mutated human carbonic anhydrase II linked to marble brain disease.
Almstedt K et al.
Biochemistry, 2009
Thermodynamic interrogation of a folding disease. Mutant mapping of position 107 in human carbonic anhydrase II linked to marble brain disease.
Almstedt K et al.
Biochemistry, 2008
Unfolding a folding disease: folding, misfolding and aggregation of the marble brain syndrome-associated mutant H107Y of human carbonic anhydrase II.
Almstedt K et al.
Journal of Molecular Biology, 2004
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Shah GN et al.
Human Mutation, 2004
Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome.
McMahon C et al.
Blood, 2001
Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.
Hu PY et al.
American Journal of Human Genetics, 1994
Kinetic analysis of a mutant (His107-->Tyr) responsible for human carbonic anhydrase II deficiency syndrome.
Tu C et al.
The Journal of Biological Chemistry, 1993
Molecular basis of human carbonic anhydrase II deficiency.
Roth DE et al.
Proceedings of the National Academy of Sciences of the United States of America, 1992
Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation.
Sundaram V et al.
American Journal of Human Genetics, 1986