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Barbara Belmessieri

As seen in: Wiley Online Library
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Articles

Novel Clinical and Neurophysiological Insights in Neonatal-Onset 3-Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations

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By Barbara Belmessieri, Sara Brunetti, Laura Malerba
| Wiley Online Library Verified
1 Introduction Type VIII 3-methylglutaconic aciduria (3-MGA) is a neurodegenerative disorder that manifests in neonates and becomes fatal within the first months of life. Mandel et al. (2016) first described the condition associated with biallelic variants of HTRA2. Currently, ten subtypes of 3-methylglutaconic aciduria have been described: types I, II, III, IV, V, VI, VIIA, VIIB, VIII, and IX (Gurusamy et al. 2024).
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PUS7 Deficiency: Phenotypical Expansion of PUS7 -Related Neurodevelopmental Disorders

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By Alice Muda, Patrizia Accorsi, Barbara Belmessieri
| Wiley Online Library Verified
1 Introduction The PUS7 gene located on chromosome 7q22 encodes for pseudouridine synthase 7, which is involved in post-transcriptional modifications of RNA. Alterations of PUS7 expression have been linked to different types of cancer.
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