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Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
The skeleton: a multi-functional complex organ: the role of key signalling pathways in osteoclast differentiation and in bone resorption.
The processes of osteoclast formation, activation and function are described and the major transcription factors and signalling pathways (including those that control the cytoskeletal rearrangements) that are important at each stage are discussed.
Generation and culture of osteoclasts.
The most commonly used procedures for the isolation, generation and characterization of human, rodent and chicken osteoclasts in vitro are summarized.
RANK-Dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations
- A. Pangrazio, B. Cassani, C. Sobacchi
- Medicine, BiologyJournal of bone and mineral research : the…
- 9 November 2011
The characterization of five additional unpublished patients from four unrelated families are presented in which five novel mutations in the TNFRSF11A gene are found, including two missense and two nonsense mutations and a single‐nucleotide insertion, which further underline the heterogeneity of human ARO also deriving from the interplay between bone and the immune system.
New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis
The cell biological studies and animal models that help to understand the nature of these different RANK defects are discussed and how careful dissection of these conditions can help understand critical pathways in osteoclast development and function are described.
Signal peptide mutations in RANK prevent downstream activation of NF-κB
Signal peptide mutations lead to accumulation of RANK in the endoplasmic reticulum and prevent direct activation by RANK ligand, which strongly suggest that the increased osteoclast formation/activity caused by these mutations cannot be explained by studying the homozygous phenotype alone.
Functional interaction between sequestosome-1/p62 and autophagy-linked FYVE-containing protein WDFY3 in human osteoclasts.
Phenotypic miRNA Screen Identifies miR-26b to Promote the Growth and Survival of Endothelial Cells
MicroRNA-based therapeutics in cardiovascular disease: screening and delivery to the target.
An overview of current studies of miRNA functions in cardiovascular cells by the use of high-content screening is provided and the challenge to achieve a safe and targeted delivery of miRNAs therapeutics iniovascular cells is discussed.
Use of a Conditional Ubr5 Mutant Allele to Investigate the Role of an N-End Rule Ubiquitin-Protein Ligase in Hedgehog Signalling and Embryonic Limb Development
The first conditional Ubr5 mutant mouse is reported and evidence for a role for UBR5 in influencing Hh signalling is provided, but it is uncertain to whether the effects on Hedgehog signaling were direct (cell autonomous) or indirect (non-cell-autonomous).