Searchable abstracts of presentations at key conferences in endocrinology

ea0077oc5.1 | Bone and Calcium | SFEBES2021

Successful adeno-associated virus mediated neonatal gene therapy treatment of hypophosphatasia murine model resulted in bone maturation and increased survival to at least 18 months

Matsumoto Tae , Miyake Noriko , Zhao Dongwei , Narisawa Sonoko , Millan Jose , Miyake Koichi

Hypophosphatasia (HPP) is an inherited skeletal disease characterized by defective bone mineralization due to a deficiency in tissue-nonspecific alkaline phosphatase (TNALP). Patients with the severe infantile form of HPP have a poor prognosis that often results in high mortality by one year. Asfotase alfa is an approved therapy for HPP, while requires chronic injections to maintain efficacy. To develop a one-time gene therapy for HPP, we examined the safety and efficacy of AA...

ea0038p7 | Bone | SFEBES2015

Differential effects of parathyroid hormone on key regulators of osteoblast mineralisation

Houston Dean , Myers Katherine , MacRae Vicky , Millan Jose Luis , Staines Katherine , Farquharson Colin

Intermittent PTH therapy is currently the only anabolic therapy for osteoporosis. As the mineralisation of the extracellular matrix of bone is essential for normal function it is vital that the effects of PTH on key regulators of mineralisation are uncovered. Ablation of Alpl, Phospho1 or Smpd3 results in skeletal hypomineralisation and as such this study examined the effects of bovine (b)PTH 1–34 on their expression. MC3T3 (clone-14) osteoblast-like cells display tempora...

ea0034oc4.2 | Thyroid and bone | SFEBES2014

PHOSPHO1: roles beyond skeletal mineralisation

Oldknow Karla , Morton Nik , Yadav Manisha , Rajoanah Sophie , Huesa Carmen , Bunger Lutz , Ball Derek , Ferron Mathieu , Karsenty Gerard , MacRae Vicky , Luis Millan Jose , Farquharson Colin

Advances in genetic approaches to bone physiology have expanded our understanding of the mechanisms by which bone and energy homeostasis interact. PHOSPHO1, a bone specific phosphatase is essential for the initiation of bone mineralisation. Here we now show that Phospho1 ablation confers a remarkable protection against obesity and diabetes in mice. To understand the mechanism whereby Phospho1 impacts metabolism, microarray analysis of osteoblasts, the primary...