Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification

Sly, William S.; Whyte, Michael P.; Sundaram, Vasantha; Tashian, Richard E.; Hewett‐Emmett, David; Guibaud, P; Vainsel, Marc; Baluarte, H. Jorge; Gruskin, Alan B.; Al-Mosawi, M.; Sakati, Nadia; Ohlsson, Arne

doi:10.1056/nejm198507183130302

Cited by 295 publications

(136 citation statements)

References 26 publications

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“…Studies in patients with a congenital absence of this enzyme and osteopetrosis have shown the critical importance of carbonic anhydrase II in osteoclast [22].…”

Section: Osteoclast Physiologymentioning

confidence: 99%

Molecular Understanding of Osteoclast Differentiation and Physiology

Lee

2010

Endocrinol Metab

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“…Studies in patients with a congenital absence of this enzyme and osteopetrosis have shown the critical importance of carbonic anhydrase II in osteoclast [22].…”

Section: Osteoclast Physiologymentioning

confidence: 99%

Molecular Understanding of Osteoclast Differentiation and Physiology

Lee

2010

Endocrinol Metab

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“…These include carbonic anhydrase II deficiency 115 (renal tubular acidosis and cerebral calcification) and a severe disease characterized by early onset of spasticity and death with eosinophilic inclusion bodies seen on CNS pathological examination (here termed 'neuronopathic' osteopetrosis since it mimics neuronal ceroid lipofuscinosis). 116,117 In both diseases HCT abolishes bone sclerosis.…”

Section: Malignant Infantile Osteopetrosis (Miop)mentioning

confidence: 99%

“…However, it has no impact on neurodegenerative disease in the latter form 116,118 and CNS amelioration in CAII deficiency seems unlikely. 115,119 . Therefore, these issues must be considered as transplantation is discussed in affected children.…”

Section: Malignant Infantile Osteopetrosis (Miop)mentioning

confidence: 99%

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Peters

Steward

2003

Bone Marrow Transplant

283

178

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Summary:For the past two decades, hematopoietic cell transplantation (HCT) has been used as effective therapy for selected inherited metabolic diseases (IMD) including Hurler (MPS IH) and Maroteaux-Lamy (MPS VI) syndromes, childhood-onset cerebral X-linked adrenoleukodystrophy (X-ALD), globoid-cell leukodystrophy (GLD), metachromatic leukodystrophy (MLD), a-mannosidosis, osteopetrosis, and others. Careful pre-HCT evaluation is critical and coordinated, multidisciplinary follow-up is essential in this field of transplantation. The primary goals of HCT for these disorders have been to promote long-term survival with donor-derived engraftment and to optimize the quality of life. Guidelines for HCT and monitoring are provided; a brief overview of long-term results is also presented.

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“…In mammals, the CA isozymes are coded by at least seven genes, designated CA I-CA VII, which in general have different tissue specificities and probably varying physiological roles [2]. In humans, an inherited deficiency of CA II (CA II deficiency syndrome) is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcification [3] and in mice by renal tubular acidosis [4] and vascular calcifications [5]. The osteopetrosis in CA II deficiency syndrome is an osteoclast-specific defect as shown by two lines of evidence.…”

Section: Introductionmentioning

confidence: 99%

Carbonic anhydrase II is induced in HL‐60 cells by 1,25‐dihydroxyvitamin D₃: A model for osteoclast gene regulation

Shapiro

Venta

et al. 1989

FEBS Letters

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Carbonic anhydrase II (CA II) generates the H ÷ required for osteoelast-mediated bone resorption in humans. We have developed the human promyelocytic cell line HL-60 as a model system with which to study the osteoclast-specific expression of the CA II gene. Treatment of the cell line with 1,25-dihydroxyvitamin D 3 resulted in a dramatic de novo induction of CA II at both the protein and mRNA levels. CA II mRNA was also induced to a lesser extent by 12-O-tetradecanoyl phorbol 13-acetate. Treatment with dimethyl sulfoxide did not increase CA II mRNA. These findings indicate that the HL-60 cell line will be a useful model system to study the osteoclast-speeific expression of the CA II gene.Carbonic anhydrase II; Osteoclast; Dihydroxyvitamin D3, 1,25-; (HL-60 cell)

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Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification

Cited by 295 publications

References 26 publications

Molecular Understanding of Osteoclast Differentiation and Physiology

Molecular Understanding of Osteoclast Differentiation and Physiology

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Carbonic anhydrase II is induced in HL‐60 cells by 1,25‐dihydroxyvitamin D₃: A model for osteoclast gene regulation

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Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification

Cited by 295 publications

References 26 publications

Molecular Understanding of Osteoclast Differentiation and Physiology

Molecular Understanding of Osteoclast Differentiation and Physiology

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Carbonic anhydrase II is induced in HL‐60 cells by 1,25‐dihydroxyvitamin D3: A model for osteoclast gene regulation

Contact Info

Product

Resources

About

Carbonic anhydrase II is induced in HL‐60 cells by 1,25‐dihydroxyvitamin D₃: A model for osteoclast gene regulation