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Infantile malignant osteopetrosis (IMO) is an autosomal recessive disorder characterized by nonfunctional osteoclasts. Approximately 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. Gene therapy represents a potential alternative treatment ...
June 10, 2019
Journal:
Hum Gene Ther
Author:
Löfvall H, Rothe M, Schambach A, Henriksen K, Richter J, Moscatelli I
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
BACKGROUND: Extracellular matrix (ECM) remodeling of the lung tissue releases protein fragments into the blood, where they may be detected as serologic surrogate markers of disease activity in COPD. Our goal was to assess the association of ECM turnover with severity and outcome of COPD. METHODS: I...
August 26, 2016
Journal:
Chest
Author:
Leeming DJ, Karsdal MA, Stolz D, Kristensen JH, Boersma W, Louis R, Milenkovic B, Kostikas K, Blasi F, Aerts J, Wouters EFM, Rohde G, Prat C, Torres A, Welte T, Papakonstantinou E, Tamm M, Bülow Sand JM, Rothe M
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