A5040248743- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- DNA Repair Mechanisms
- Neurological diseases and metabolism
- Hereditary Neurological Disorders
- Neurological disorders and treatments
- Ubiquitin and proteasome pathways
- Neurology and Historical Studies
- Endoplasmic Reticulum Stress and Disease
- Parkinson's Disease Mechanisms and Treatments
- Organ and Tissue Transplantation Research
- Amyotrophic Lateral Sclerosis Research
- CRISPR and Genetic Engineering
- Muscle Physiology and Disorders
- Erythropoietin and Anemia Treatment
- Prenatal Screening and Diagnostics
- Advanced Nanomaterials in Catalysis
- ATP Synthase and ATPases Research
- Neurological and metabolic disorders
- Adipose Tissue and Metabolism
- Prion Diseases and Protein Misfolding
- Cancer-related gene regulation
- Peroxisome Proliferator-Activated Receptors
- Genomics and Chromatin Dynamics
- Cancer-related molecular mechanisms research
Federico II University Hospital
1995-2018
University of Naples Federico II
1994-2018
Institute for Experimental Endocrinology and Oncology
2005-2007
Telethon Institute Of Genetics And Medicine
2002-2003
Vita-Salute San Raffaele University
2003
University of Milano-Bicocca
2003
Bambino Gesù Children's Hospital
2001
BioAge (Italy)
2000
Istituto Neurologico Mediterraneo
1997
AKAP121 focuses distinct signaling events from membrane to mitochondria by binding and targeting cAMP-dependent protein kinase (PKA), tyrosine phosphatase (PTPD1), mRNA. We find that also targets src via PTPD1. increased src-dependent phosphorylation of mitochondrial substrates enhanced the activity cytochrome c oxidase, a component respiratory chain. Mitochondrial potential ATP oxidative synthesis were in an src- PKA-dependent manner. Finally, siRNA-mediated silencing endogenous drastically...
The most frequent mutation of Friedreich ataxia (FRDA) is the abnormal expansion a GAA repeat located within first intron FXN gene. It known that length directly correlated with disease severity. effect severe reduction mRNA. Recently, link among aberrant CpG methylation, chromatin organisation and was proposed.In this study, using pyrosequencing technology, we have performed quantitative analysis methylation status five sites region upstream repeat, in 67 FRDA patients.We confirm previous...
Twenty two patients from 17 families with Friedreich9s disease phenotype but onset ranging the ages of 21 to 36 are described. Comparison "typical" before 20 years age showed only a lower occurrence skeletal deformities. The peripheral and central neurophysiological findings, sural nerve biopsy, neuroradiological picture did not allow differentiation between "late onset" disease. Duration becoming confined wheelchair was five longer in late patients. Sixteen 25 healthy members eight were...
The authors describe an Italian family with autosomal dominant ataxia, dementia, psychiatric and extrapyramidal features, epilepsy, mild sensorimotor axonal neuropathy, MRI findings of cerebral cerebellar atrophy. A child had a distinctive presentation onset at 3 years, growth retardation, fast progression, early death. Molecular analysis demonstrated expanded CAG/CAA repeat in the <i>TBP</i> gene (SCA-17). size was 66 triplets 53 all other patients.
We have analysed the CAG repeat in Huntington disease (HD) gene sperm and blood from 20 unrelated HD patients. Although displayed significant mosaicism all individuals, there were marked differences degree of instability. Individuals who had either inherited or transmitted an expanded highest levels mosaicism, whereas individuals a contracted very limited sperm. A strong association between intergenerational change allele size level was determined (P = 0.019). In contrast, neither nor blood,...
Background: The primary aim of the present study was to determine survival rates and identify predictors disease duration in a cohort Huntington's (HD) patients from Southern Italy. Methods: All medical records HD followed between 1977 2008 at Department Neurological Sciences Federico II University Naples were retrospectively reviewed 135 enrolled analysis. At time data collection, 41 deceased (19 males 22 females) with mean ± SD age death 56.6 14.9 years (range 18-83). Results: median 20...
Easily accessible biomarkers in Huntington disease (HD) are actively searched. We investigated telomere length and DNA double‐strand breaks (histone variant pγ‐H2AX) as predictive peripheral blood mononuclear cells (PBMC) from 25 premanifest subjects, 58 HD patients with similar CAG expansion the huntingtin gene ( HTT ), 44 healthy controls (HC). PBMC pre‐HD groups showed shorter telomeres p < 0.0001) a significant increase of pγ‐H2AX compared to 0.0001). The levels correlated robustly...
Two hundred and forty-eight patients from 116 Italian families with dominant ataxia were studied for CAG expansion within <i>SCA1, 2, 3, 6, 7</i> (spinocerebellar ataxia) <i>DRPLA</i> (dentatorubropallidoluysian atrophy) genes. Fifty-six percent of the originated Southern, 19% Central 25% Northern Italy. SCA2 was commonest mutation, accounting 47% families, followed by SCA1 (24%), SCA6 (2%), SCA7 (2%) DRPLA (1%). No SCA3 family found. Twenty-four carried a still...
Abstract Degeneration of substantia nigra has been described in spinocerebellar ataxia type 2 (SCA2). In this study, dopamine transporter (DAT) density with [ 123 I]FP‐CIT SPECT was studied six SCA2 patients no parkinsonian signs, Parkinson's disease (PD) patients, and controls. Marked striatal DAT loss found both PD patients. However, a more severe reduction the caudate higher putamen to ratio distinguished from suggesting uniform nigrostriatal impairment SCA2. Striatal correlated severity...
OBJECTIVE—We explore the relationship among BMI, habitual diet, and Pro12Ala polymorphism in peroxisome proliferator–activated receptor (PPAR)γ2. RESEARCH DESIGN AND METHODS—The variant was characterized 343 unrelated type 2 diabetic patients who were consecutively seen at outpatient clinic of a health district province Naples. Anthropometric laboratory parameters measured; diet assessed by validated semiquantitative food frequency questionnaire. RESULTS—The overall Ala12 12% (n = 42). BMI...
The gene for spinocerebellar ataxia type 2 (SCA2) is mapped to chromosome 12q23-24.1. Using D12S79 and D12S105, we performed linkage analysis in nine individuals including six affected members of a four-generation family which excluded SCA1 by direct mutation analysis. We obtained lod score = 2.37 at theta 0.00 the compound haplotype. clinical picture appeared homogeneous, showing absence corticospinal signs presence peripheral neuropathy. present study suggests that this SCA2 clinically...
The length of the CAG repeat responsible for Huntington disease has been analysed by two PCR methods in blood and sperm DNA 13 expansion carriers, carriers intermediate alleles, four normal subjects. consistently confirmed size heterogeneity, more pronounced confined to stretch. Based on densitometric scanning films, indexes addressed different features pattern were used quantitate mosaicism. These revealed strong correlations with intergenerational instability. However, mosaicism did not...
<b><i>Objective:</i></b> To perform a clinical and molecular study of large autosomal dominant family with complex neurologic syndrome that comprises early-onset dementia, extrapyramidal cerebellar features, epilepsy. <b><i>Background:</i></b> Early-onset forms dementia often are caused by genetic factors. Mutations three different genes—<i>amyloid precursor protein</i> (<i>APP</i>), <i>presenilin 1</i> (<i>PS-1</i>), 2</i> (<i>PS-2</i>)—have been found in AD, the human microtubule...
Enhanced oxidative stress and inflammation contribute to telomere erosion. Friedreich's ataxia is a neurodegenerative disorder caused by reduction in frataxin expression that results mitochondrial dysfunction damage. Furthermore, deficiency induces strong activation of inflammatory genes neuronal death. We investigated length (TL) peripheral blood leukocytes 37 patients with 36 controls. noted significant shortening compared healthy controls (p=0.03). also found correlation between TL...
Abstract Background CpG dinucleotide-rich genomic DNA regions, known as islands (CGIs), can be methylated at their cytosine residues an epigenetic mark that is stably inherited during cell mitosis. Differentially regions (DMRs) are showing different degrees of methylation in multiple samples. In this study, we focused our attention on CGIs between two culture replicas the same line. Results We used data 35 lines from Encyclopedia Elements (ENCODE) consortium to identify were differentially...
Two brothers presented with late-onset cerebellar ataxia and severe dysphonia. Brain MRI showed vermian hemispheric atrophy. Laringofiberscopy revealed laryngeal abductor paralysis in both patients. Neurophysiologic studies a pure motor neuropathy. The combined findings the molecular analysis suggest new familial disorder. Inheritance is most likely autosomal recessive, but X-linked transmission also possible.