Di Fonzo

Dec 9, 2024 | academic.oup.com | Di Fonzo

We thank Prof. Konrad Oexle for his letter and interest in our work.1 His concerns are related to the ‘proclaimed’ occurrence of different epitypes (i.e. allelic episignatures) associated with different sets of variants affecting KMT2B. A simple reading of our paper shows that the colleague has clearly misinterpreted our considerations.2In order to ‘avoid unnecessary confusion’, we address each of the raised main concerns below.

Sep 18, 2024 | link.springer.com | Di Rauso |Di Fonzo |Reggio Emilia |AUSL-IRCCS Reggio Emilia

AbstractAtaxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder presenting with cerebellar ataxia, sensory-motor axonal neuropathy, oculomotor apraxia, cerebellar atrophy and high alpha-fetoprotein (AFP) serum level. AOA2 is due to coding mutations of the SETX gene, mapped to chromosome 9q34. Seldom noncoding mutations affecting RNA processing have been reported too. To date psychiatric symptoms have never been reported in AOA2.

Sep 16, 2024 | helmholtz-munich.de | Di Fonzo

Stenton, S. ; Mayr, J.A. ; Wortmann, S. ; Prokisch, H. Scientific Article in European Journal of Nutrition Hellbach, F. ; Sinke, L. ; Costeira, R. ; Baumeister, S.E. ; Beekman, M. ; Louca, P. ; Leeming, E.R. ; Mompeo, O. ; Berry, S. ; Wilson, R. ; Wawro, N. ; Freuer, D. ; Hauner, H. ; Peters, A. ; Winkelmann, J. ; Koenig, W. ; Meisinger, C. ; Waldenberger, M. ; Heijmans, B.T. ; Slagboom, P.E. ; Bell, J.T. ; Linseisen, J. Scientific Article in Journal of Molecular Neuroscience : JMN Online Soudyab, M.

Apr 25, 2024 | academic.oup.com | Di Fonzo

Neurological monogenic loss-of-function diseases are hereditary disorders resulting from gene mutations that decrease or abolish the normal function of the encoded protein. These conditions pose significant therapeutic challenges, which may be resolved through the development of innovative therapeutic strategies. RNA-based technologies, such as mRNA replacement therapy, have emerged as promising and increasingly viable treatments.

Apr 25, 2024 | academic.oup.com | Di Fonzo

Neurological monogenic loss-of-function diseases are hereditary disorders resulting from gene mutations that decrease or abolish the normal function of the encoded protein. These conditions pose significant therapeutic challenges, which may be resolved through the development of innovative therapeutic strategies. RNA-based technologies, such as mRNA replacement therapy, have emerged as promising and increasingly viable treatments.