Publications by authors named "G Zifarelli"
Article Synopsis
- - WDR83OS encodes a protein called Asterix, which works with another protein, CCDC47, to help fold large proteins correctly, specifically those with transmembrane domains.
- - Recent findings linked mutations in CCDC47 and WDR83OS to trichohepatoneurodevelopmental syndrome, showing consistent symptoms like neurodevelopmental disorders, facial dysmorphism, and liver dysfunction across multiple families.
- - A zebrafish model lacking Wdr83os function demonstrated its crucial role in the nervous system and lipid absorption, further establishing a connection between WDR83OS mutations and neurological diseases characterized by elevated bile acids.
Purpose: Biallelic INPP4A variants have recently been associated with severe neurodevelopmental disease in single-case reports. Here, we expand and elucidate the clinical-genetic spectrum and provide a pathomechanistic explanation for genotype-phenotype correlations.
Methods: Clinical and genomic investigations of 30 individuals were undertaken alongside molecular and in silico modelling and translation reinitiation studies.
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.
Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.
Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense variants in NOTCH3 are well-studied in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), patients with biallelic variants in NOTCH3 are extremely rare and not well characterised.
View Article and Find Full Text PDFPatatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have been associated with a range of paediatric neurodegenerative disorders. However, the phenotypic spectrum, genotype-phenotype correlations and the underlying mechanisms are poorly understood.
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