Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy.

LW Lai, DM Chan, RP Erickson… - The Journal of clinical …, 1998 - Am Soc Clin Investig
Carbonic anhydrase II (CAII) deficiency in humans is associated with a syndrome of renal
tubular acidosis, osteopetrosis, and cerebral calcification. A strain of mice of CAII deficiency …

The role of carbonic anhydrase in the pathogenesis of vascular calcification in humans

MM Adeva-Andany, C Fernández-Fernández… - Atherosclerosis, 2015 - Elsevier
Carbonic anhydrases are a group of isoenzymes that catalyze the reversible conversion of
carbon dioxide into bicarbonate. They participate in a constellation of physiological …

Osteopetrosis.

MS Kocher, JR Kasser - … Journal of Orthopedics (Belle Mead, NJ), 2003 - europepmc.org
Osteopetrosis is a rare skeletal condition characterized by skeletal sclerosis caused by
aberrant osteoclast-mediated bone resorption. Three clinically distinct forms of osteopetrosis …

Osteoclast biology: lessons from mammalian mutations

SC Marks Jr - American journal of medical genetics, 1989 - Wiley Online Library
Major contributions to and confirmations of osteoclast biology have been made by
experimental investigations of the osteopetrotic mutations in mammals. Congenital …

Long-term follow up of carbonic anhydrase II deficiency syndrome.

M Awad, AA Al-Ashwal, N Sakati, AA Al-Abbad… - Saudi medical …, 2002 - europepmc.org
Objective To describe the long term clinical, biochemical and radiological features of 35
Saudi Arabian children with carbonic anhydrase II deficiency syndrome who have been …

Membrane-bound carbonic anhydrases in osteoclasts

R Riihonen, CT Supuran, S Parkkila, S Pastorekova… - Bone, 2007 - Elsevier
Osteoclasts are multinucleated bone-resorbing cells that use multiple pH regulation
mechanisms to create an acidic pH in the resorption lacuna. Carbonic anhydrase II and …

Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII

M Feldshtein, S Elkrinawi, B Yerushalmi… - The American Journal of …, 2010 - cell.com
Excessive chloride secretion in sweat (hyperchlorhidrosis), leading to a positive sweat test,
is most commonly indicative of cystic fibrosis yet is found also in conjunction with various …

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

C Diez-Fernandez, V Rüfenacht, S Santra… - Genetics in …, 2016 - nature.com
Purpose: Four mitochondrial metabolic liver enzymes require bicarbonate, which is provided
by the carbonic anhydrase isoforms VA (CAVA) and VB (CAVB). Defective hepatic …

[HTML][HTML] Carbonic anhydrase XIV: luminal expression suggests key role in renal acidification

K Kaunisto, S Parkkila, H Rajaniemi, A Waheed… - Kidney international, 2002 - Elsevier
Carbonic anhydrase XIV: Luminal expression suggests key role in renal acidification.
Background Carbonic anhydrase (CA) plays a fundamental role in regulation of systemic …

Expression of carbonic anhydrase IV in carbonic anhydrase II-deficient mice

LP Brion, W Cammer, LM Satlin… - American Journal …, 1997 - journals.physiology.org
Chronic metabolic acidosis (CMA) in the rabbit upregulates carbonic anhydrase (CA) IV in
the proximal convoluted tubule (PCT). This study was designed to assess CA IV expression …