Leonardo Salviati
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View article: Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction
Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction Open
Skeletal muscles, which constitute 40-50% of body mass, regulate whole-body energy expenditure and glucose and lipid metabolism. Peroxisomes are dynamic organelles that play a crucial role in lipid metabolism and clearance of reactive oxyg…
View article: Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer Open
NF1-associated BC is characterized by earlier onset, aggressive tumor features, and distinct mutational patterns.
View article: A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)
A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA) Open
Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of li…
View article: Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails
Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails Open
Background Glutaric aciduria type I (GA-I) is an autosomal recessive disorder affecting the metabolism of lysine, hydroxylysine, and tryptophan. Patients present in the first age of life with an irreversible motor disorder, and neuroradiol…
View article: HPDL is critical in human cortical development via regulation of mitochondrial functional properties
HPDL is critical in human cortical development via regulation of mitochondrial functional properties Open
Human brain development is highly regulated by several spatiotemporal processes, which disruption can result in severe neurological disorders. Emerging evidence highlights the pivotal role of mitochondrial function as one of these fundamen…
View article: Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy Open
VPS13A disease (chorea-acanthocytosis), is an ultra-rare autosomal recessive neurodegenerative disorder caused by mutations of the VPS13A gene encoding Vps13A. Increased serum levels of the muscle isoform of creatine kinase associated with…
View article: Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the <scp>PADUA</scp>‐<scp>CESNE</scp> Cohort
Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the <span>PADUA</span>‐<span>CESNE</span> Cohort Open
Background Mutations in progranulin ( GRN ) are associated with frontotemporal dementia, although a Parkinson disease (PD) phenotype is uncommon, especially in young patients. Cases We report three subjects from the PADUA‐CESNE cohort, mee…
View article: Impact of <scp>SDHA</scp> Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes
Impact of <span>SDHA</span> Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes Open
We present the case of a child who developed focal seizures, emotional and behavioral dysregulation, and sleep abnormalities at age 5. Trio whole genome sequencing identified biallelic mutations in the SDHA gene, which encodes a key compon…
View article: MARIGOLD and MitoCIAO, two searchable compendia to visualize and functionalize protein complexes during mitochondrial remodeling
MARIGOLD and MitoCIAO, two searchable compendia to visualize and functionalize protein complexes during mitochondrial remodeling Open
Mitochondrial proteins assemble dynamically in high molecular weight complexes essential for their functions. We generated and validated two searchable compendia of these mitochondrial complexes. Following identification by mass spectromet…
View article: Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker Open
Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology …
View article: Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening Open
View article: Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I
Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I Open
View article: Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy Open
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with a broad clinical spectrum. Early diagnosis and initiation of treatment are crucial for improving outcomes, yet the disease often goes undiagnosed due to its …
View article: Characterization of Two Novel <i>PNKP</i> Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations
Characterization of Two Novel <i>PNKP</i> Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations Open
Polynucleotide kinase phosphatase (PNKP), encoded by the PNKP gene, is a DNA processing enzyme involved in double‐strand break and single‐strand break repair pathways, which are essential for genome stability and for the correct developmen…
View article: Double Trouble: A Comprehensive Study Into Unrelated Genetic Comorbidities in Adult Patients with Facioscapuluhumeral Muscular Dystrophy Type I
Double Trouble: A Comprehensive Study Into Unrelated Genetic Comorbidities in Adult Patients with Facioscapuluhumeral Muscular Dystrophy Type I Open
Facioscapulohumeral dystrophy type 1 (FSHD1) displays prominent intra- and interfamilial variability, which complicates the phenotype-genotype correlation. In this retrospective study, we investigated FSHD1 patients classified as category …
View article: Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function Open
The vacuolar H+-ATPase (V-ATPase) is a functionally conserved multimeric complex localized at the membranes of many organelles where its proton-pumping action is required for proper lumen acidification. The V-ATPase complex is c…
View article: Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene Open
Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance. The f…
View article: Genetic mutations in Parkinson’s disease: screening of a selected population from North-Eastern Italy
Genetic mutations in Parkinson’s disease: screening of a selected population from North-Eastern Italy Open
View article: Non-Motor Symptoms in Primary Familial Brain Calcification
Non-Motor Symptoms in Primary Familial Brain Calcification Open
Background/Objectives: Primary Familial Brain Calcification is a rare neurodegenerative disorder of adulthood characterized by calcium deposition in the basal ganglia and other brain areas; the main clinical manifestations include movement…
View article: C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals
C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals Open
The identification of genes that confer either extension of life span or accelerate age-related decline was a step forward in understanding the mechanisms of aging and revealed that it is partially controlled by genetics and transcriptiona…
View article: Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene Open
Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance. The f…
View article: ALTERATIONS IN PEROXISOMAL-MITOCHONDRIAL INTERPLAY IN SKELETAL MUSCLE ACCELERATES MUSCLE DYSFUNCTION
ALTERATIONS IN PEROXISOMAL-MITOCHONDRIAL INTERPLAY IN SKELETAL MUSCLE ACCELERATES MUSCLE DYSFUNCTION Open
Whole-body energy expenditure, as well as glucose and lipid metabolism, are regulated by skeletal muscles, which account for 40-50% of human body mass. Peroxisomes are dynamic organelles that play a crucial role in lipid metabolism and cle…
View article: <i>TP53</i> DNA binding domain mutational status and rituximab-based treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification
<i>TP53</i> DNA binding domain mutational status and rituximab-based treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification Open
Not available.
View article: Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment Open
View article: COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells Open
View article: Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain Open
View article: Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy Open
In the last two decades, the development of high-throughput diagnostic methods and the availability of effective treatments have increased the interest in newborn screening for lysosomal storage disorders. However, long-term follow-up expe…
View article: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain Open
View article: Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy Open
Background Zellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD) are inherited metabolic diseases characterized by dysfunction of peroxisomes, that are essential for lipid metabolism and redox balance. Oxidative stre…
View article: COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cells
COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cells Open
SUMMARY Coenzyme Q (CoQ) is a redox lipid that fulfills critical functions in cellular bioenergetics and homeostasis. CoQ is synthesized by a multi-step pathway that involves several COQ proteins. Two steps of the eukaryotic pathway, the d…