Molecular basis of human carbonic anhydrase II deficiency.
نویسندگان
چکیده
منابع مشابه
Carbonic anhydrase II deficiency a novel mutation.
Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder, characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A 12 year old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation .To the best of our kn...
متن کاملThe neurology of carbonic anhydrase type II deficiency syndrome.
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular acidosis and brain calcifications. We describe the neurological, neuro-ophthalmological and neuroradiological features of 23 individuals (10 males, 13 females; ages at final examination 2-29 years) from 10 unrelated consanguineous families with ...
متن کاملCarbonic Anhydrase II Deficiency in a Saudi Woman
OBJECTIVE Carbonic anhydrase (CA) II deficiency is a rare autosomal recessive disorder caused by mutation in the CA II gene that leads to osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. Our aim is to present a patient with the classic triad of CA II deficiency syndrome to enhance the awareness about this rare syndrome. METHODS We describe the clinical and radiological...
متن کاملCarbonic anhydrase II deficiency syndrome--clinico-pathological, biochemical and molecular studies.
We reported on three unrelated Japanese families with carbonic anhydrase II (CA II) deficiency syndrome. In the present study, the CA II gene was sequenced in the family of a patient with hybrid type renal tubular acidosis whose parents were nonconsanguineous, and a T to G transition at exon 2 was identified. The change results in the substitution of the stop codon (TAG) at position 40 for Tyr ...
متن کاملAzobenzene-based inhibitors of human carbonic anhydrase II
Aryl sulfonamides are a widely used drug class for the inhibition of carbonic anhydrases. In the context of our program of photochromic pharmacophores we were interested in the exploration of azobenzene-containing sulfonamides to block the catalytic activity of human carbonic anhydrase II (hCAII). Herein, we report the synthesis and in vitro evaluation of a small library of nine photochromic su...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1992
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.89.5.1804