Barbara Gnutti
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View article: An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research
An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research Open
Mitochondrial Membrane Protein-Associated Neurodegeneration is a rare monogenic form of neurodegeneration characterized by iron accumulation in the brain. It is due to variants in the orphan gene C19orf12. Since its definition in 2011, man…
View article: Targeted blocking of gene splicing can dysregulate intron-embedded microRNAs
Targeted blocking of gene splicing can dysregulate intron-embedded microRNAs Open
ASOs (antisense oligonucleotides) are a promising therapeutic approach for suppression, induction of gene expression or the correction of aberrant splicing. Addressing whether ASOs targeting genes embedded with intronic noncoding RNAs (ncR…
View article: Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder: evidence from patients and models of the disease
Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder: evidence from patients and models of the disease Open
Background PPCS deficiency disorder (PPCS DD) is an ultra-rare, autosomal recessive form of dilated cardiomyopathy (DCM) caused by pathogenic variants in PPCS, which encodes the enzyme catalyzing the second step in the coenzyme A (CoA) bio…
View article: WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report Open
Pathogenic WDR45 variants cause neurodevelopmental disorders (NDDs) including β-propeller protein-associated neurodegeneration, characterized by developmental delay (DD), ataxia and extrapyramidal signs. Our proband presented at 22 months …
View article: Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish Open
Myofibrillar myopathies (MFMs) are a group of hereditary neuromuscular disorders sharing common histological features, such as myofibrillar derangement, Z-disk disintegration, and the accumulation of degradation products into protein aggre…
View article: Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis Open
Significance Statement Congenital obstructive uropathy (COU) is a prevalent human developmental defect with highly heterogeneous clinical presentations and outcomes. Genetics may refine diagnosis, prognosis, and treatment, but the genomic …
View article: Coenzyme a Biochemistry: From Neurodevelopment to Neurodegeneration
Coenzyme a Biochemistry: From Neurodevelopment to Neurodegeneration Open
Coenzyme A (CoA) is an essential cofactor in all living organisms. It is involved in a large number of biochemical processes functioning either as an activator of molecules with carbonyl groups or as a carrier of acyl moieties. Together wi…
View article: Integrated mutational landscape analysis of uterine leiomyosarcomas
Integrated mutational landscape analysis of uterine leiomyosarcomas Open
Significance Identification of novel, effective treatment modalities for patients with uterine leiomyosarcomas (uLMS) remains an unmet medical need. Using an integrated whole-genome, whole-exome, and RNA-Seq analysis, we identified recurre…
View article: P0074EXPANDING THE VARIABILITY OF THE ADPKD-GANAB CLINICAL PHENOTYPE: A NEW FAMILY OF ITALIAN ANCESTRY
P0074EXPANDING THE VARIABILITY OF THE ADPKD-GANAB CLINICAL PHENOTYPE: A NEW FAMILY OF ITALIAN ANCESTRY Open
Background and Aims Causative GANAB mutations have been described in only 123 families, 98 diagnosed with late-onset mild ADPKD and 35 with ADPLD. We describe a new family with mild, late-onset ADPKD due to p. R839W GANAB mutation, previou…