Tubular aggregate myopathy (TAM) is one of a cluster of rare genetic diseases, together with Stormorken syndrome and York platelet syndrome (YPS). The aetiology of these diseases is the mutation in one of two key proteins, ORAIi and STIMÍ. Both proteins are the principai protagonists in Store-Operated Calcium Entry (SOC Entry), a mechanism of calcium homeostasis. Up to now, no mouse model has been designed bearing a luminal STIM1 mutation associated with the clinical diagnosis of any of the diseases. A mouse model bearing 11 15F mutation, which is associated with TAM and YPS, is extremely needed, to guarantee the effectiveness of putative treatment in patients bearing luminal STIM1 mutations. This thesis project demonstrates that the KI-STIM" mouse model is valid for both TAM and YPS, confirming at the same time the hypothesis of some authors, who defend that TAM, Stormorken, and YPS are indeed the spectra of the same disease whose symptoms differences are base in the position and effect of the point mutation.

Characterization of a mouse model for Tubular Aggregate Myopathy and development of small molecules / Cordero Sanchez, Celia. - ELETTRONICO. - (2022). [10.20373/uniupo/openthesis/148545]

Characterization of a mouse model for Tubular Aggregate Myopathy and development of small molecules

Cordero Sanchez, Celia
2022-01-01

Abstract

Tubular aggregate myopathy (TAM) is one of a cluster of rare genetic diseases, together with Stormorken syndrome and York platelet syndrome (YPS). The aetiology of these diseases is the mutation in one of two key proteins, ORAIi and STIMÍ. Both proteins are the principai protagonists in Store-Operated Calcium Entry (SOC Entry), a mechanism of calcium homeostasis. Up to now, no mouse model has been designed bearing a luminal STIM1 mutation associated with the clinical diagnosis of any of the diseases. A mouse model bearing 11 15F mutation, which is associated with TAM and YPS, is extremely needed, to guarantee the effectiveness of putative treatment in patients bearing luminal STIM1 mutations. This thesis project demonstrates that the KI-STIM" mouse model is valid for both TAM and YPS, confirming at the same time the hypothesis of some authors, who defend that TAM, Stormorken, and YPS are indeed the spectra of the same disease whose symptoms differences are base in the position and effect of the point mutation.
2022
34
File in questo prodotto:
File Dimensione Formato  
CORDERO SANCHEZ_tesi_2022.pdf

file ad accesso aperto

Descrizione: PDF C. Cordero Sanchez tesi di dottorato
Tipologia: Altro materiale allegato
Licenza: DRM non definito
Dimensione 13.01 MB
Formato Adobe PDF
13.01 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11579/148545
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact