Publications
Find an abstract and a link to most of the publications produced by Nordic Bioscience
Find an abstract and a link to most of the publications produced by Nordic Bioscience
Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by nonfunctional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to develop a clinically...
July 20, 2017
Journal:
Hum Gene Ther
Author:
Moscatelli I, Löfvall H, Rothe M, Montano C, Kertész Z, Sirin M, Schulz AS, Schambach A, Henriksen K, Richter J, Thudium CS
Infantile malignant osteopetrosis (IMO) is a rare, recessive disorder characterized by increased bone mass caused by dysfunctional osteoclasts. The disease is most often caused by mutations in the TCIRG1 gene encoding a subunit of the V-ATPase involved in the osteoclasts capacity to resorb bone. We ...
August 19, 2016
Journal:
Calcif Tissue Int
Author:
Thudium CS, Moscatelli I, Löfvall H, Kertész Z, Montano C, Bjurström CF, Karsdal MA, Schulz AS, Richter J, Henriksen K
Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by non-functional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to restore the resorpt...
November 5, 2013
Journal:
Bone
Author:
Moscatelli I, Thudium CS, Flores C, Askmyr M, Gudmann NS, Andersen NM, Porras O, Karsdal MA, Villa A, Fasth A, Henriksen K, Richter J, Schulz AS
Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by non-functional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to restore the resorpt...
July 29, 2013
Journal:
Bone
Author:
Moscatelli I, Thudium CS, Flores C, Askmyr M, Gudmann KN, Andersen NM, Porras O, Karsdal MA, Villa A, Fasth A, Henriksen K, Richter J, Schulz AS
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