Searchable abstracts of presentations at key conferences on calcified tissues

ba0003pp380 | Other diseases of bone and mineral metabolism | ECTS2014

TNSALP influences neurogenic differentiation by altering gene expression in SH-SY5Y cells

Graser Stephanie , Mentrup Birgit , Hofmann Christine , Schneider Doris , Jakob Franz

Hypophosphatasia (HPP) is a rare disease characterized by low enzymatic activity of tissue-nonspecific alkaline phosphatase (TNSALP) resulting in an accumulation of its endogenous substrates like pyridoxal phosphate (PLP) and inorganic pyrophosphate (PPi). The ectoenzyme plays an important role during bone mineralization and might contribute to proper function of kidney and muscle. Neurological symptoms of HPP like seizures, anxiety disorders and depression provide ...

ba0006p057 | (1) | ICCBH2017

Zebrafish as a model for hypophosphatasia

Graser Stephanie , Liedtke Daniel , Geidner Barbara , Heppenstiel Yvonne , Jakob Franz , Klopocki Eva

Objectives: Hypophosphatasia (HPP) is a rare hereditary disease, leading to deficits in bone and tooth mineralization, muscular as well as neurological abnormalities due to decreased enzymatic activity of the tissue-nonspecific alkaline phosphatase (TNAP, encoded by the alpl gene). In this project, the zebrafish (Danio rerio) will be established as a new and valuable animal model for HPP research. Consequently, endogenous TNAP expression should be analyzed in different zebrafi...