Background: Infantile malignant osteopetrosis (IMO) is an autosomal recessive disorder characterized by non-functional osteoclasts and a fatal outcome early in childhood. About 50% of patients have mutations in the TCIRG1 gene. Methods: IMO iPSCs were generated from a patient carrying a homozygous ...
May 15, 2020
Journal:
Stem Cells Res Ther
Author:
Xian X, Moraghebi R, Löfvall H, Fasth A, Henriksen K, Richter J, Woods NB, Moscatelli I
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
Objectives: Here, we tested the hypothesis that human M-CSF (hM-CSF) overexpressed in cord blood (CB) CD34+ cells would induce differentiation and survival of monocytes and osteoclasts in vitro and in vivo. Methods: Human M-CSF was overexpressed in cord blood CD34+ cells using a lentiviral vector. ...
February 3, 2017
Journal:
Eur J Hematology
Author:
Montano Almendras CP, Thudium CS, Löfvall H, Moscatelli I, Schambach A, Henriksen K, Richter J
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
Osteopetrosis due to lack of acid secretion by osteoclasts is characterized by abolished bone resorption, increased osteoclast numbers, but normal or even increased bone formation. In contrast, osteoclast-poor osteopetrosis appears to have less osteoblasts and reduced bone formation, indicating that...
May 18, 2014
Journal:
Calcif Tissue Int.
Author:
Thudium CS, Moscatelli I, Flores C, Thomsen JS, Brüel A, Gudmann Stæhr N, Hauge EM, Karsdal MA, 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
The osteoclast is vital for establishment of normal hematopoiesis in the developing animal. However, its role for maintenance of hematopoiesis in adulthood is more controversial. To shed more light on this process, we transplanted hematopoietic stem cells from two osteopetrotic mouse models, with la...
October 4, 2013
Journal:
Haematologica
Author:
Flores C, Moscatelli I, Thudium CS, Gudmann Stæhr N, Thomsen J, Brüel A, Karsdal MA, Henriksen K, Richter J
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
Search and find publications that we have published.
Please don't hesitate to contact us if you have any questions or other inquiries.