Enza Maria Valente

Italian Journal of Anatomy and Embryology - contenuto non piu disponibile

Paola Lenzi, Alessandra Falleni, Roberta Marongiu, Enza Maria Valente et autres

The second most frequent cause of autosomal recessive Parkinson’s disease is represented by mutations in the PTEN-induced putative kinase1 (PINK1). The PINK1 protein mainly localizes to mitochondria which are considered the target organelles mainly affected in Parkinson’s disease. In fact, parkinsonism-inducing neurotoxins …

Italian Journal of Anatomy and Embryology - contenuto non piu disponibile

Leonardo Settimini, Paola Lenzi, Alessandra Falleni, Enza Maria Valente et autres

Mutations in the PTEN-induced putative kinase1 (PINK1) represent the second most common cause of autosomal recessive Parkinson’s disease. The PINK1 protein has a mitochondrial localization and interacts with a variety of proteins, including the pro-autophagy protein beclin1 and the ubiquitin-ligase parkin. In …

GCH1 p.Ser80Asn Confers Risk for Parkinson’s Disease in East Asian Populations

Yi Wen Tay, Andrew Leslie Lee, Jie Ping Schee, Chin Hsien Lin et autres

Abstract Introduction GCH1 has been implicated in Parkinson’s disease (PD), but its risks variants and associations are not well defined. Objectives To investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant. Methods We first identified a segregating GCH1 …

my, tw, sg, kr, au, hk, us, gb, es, de, Afrique du Sud, it (code pays fourni par la source)

Phenotypic Refinement of ESAM ‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Mauro Lecca, Chiara Bosetti, Federico Ruoli, Liviana Fontanel et autres

BACKGROUND: Endothelial cell-selective adhesion molecule (ESAM) is a tight junction protein essential for blood-brain barrier integrity and angiogenesis. Bi-allelic loss-of-function variants in ESAM cause NEDIHSS ("Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity"), a neurodevelopmental/neurovascular disorder with antenatal/neonatal onset, characterized by global …

it, fr, us, gb (code pays fourni par la source)

Genome-wide association study of copy number variations in Parkinson’s disease

Zied Landoulsi, Ashwin Ashok Kumar Sreelatha, Nicole Kuznetsov, Dheeraj Reddy Bobbili et autres

Abstract Objective To investigate the impact of copy number variations (CNVs) on Parkinson’s disease (PD) pathogenesis using genome-wide data and explore their role in sporadic PD. Methods We analyzed CNV data from 11,035 PD patients (including 2,731 early-onset PD (EOPD)) and 8,901 …

lu, de, ru, us, gb, fr, pl, au, at, ca, ee, gr, cy, it, jp, kr, nl, no, pt, Afrique du Sud, es, se (code pays fourni par la source)

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

Mukhtar Ullah, Atta Ur Rehman, Madhur Shetty, Michael D. Allen et autres

Importance: Inherited retinal dystrophies are a group of disorders that may lead to progressive vision loss. Improved knowledge of their molecular genetics is important for accurate diagnosis or development of targeted therapies. Objective: To identify pathogenic variants in the SLC6A6 gene (encoding …

ch, pk, us, it, fr, au, gb (code pays fourni par la source)

TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations

Wen-Hua Sun, Claudia Schulte, Thomas Gasser, Manuela M. X. Tan et autres

Genome-wide association study of Parkinson's disease (PD) identified common variants associated with lysosomal mechanism, including TMEM175, SCARB2, and CTSB. We investigated the association between common and rare variants across populations using cohorts from the Global Parkinson's Genetics Program (GP2) (33,733 cases and …

de, no, cl, us, gb, Nigéria, br, ar, au, at, ca, cn, hk, co, cr, Égypte, Éthiopie, fr, Ghana, gr, hn, in, ir, it, jp, kg, lu, my (code pays fourni par la source)

GBA1 status and sex impact on depression severity and progression in Parkinson’s Disease

Pierfrancesco Mitrotti, Micol Avenali, Carlo Alberto Artusi, Rosa De Micco et autres

it, gb (code pays fourni par la source)

Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant

Micol Avenali, Carlo Alberto Artusi, Roberto Cilia, Giulia Giannini et autres

BACKGROUND AND OBJECTIVES: genotype and DBS on long-term motor and nonmotor outcomes. METHODS: variant class and DBS target. RESULTS: -between <0.001 and 0.02, respectively), regardless of DBS. No relevant differences emerged on stratification for variant classes or DBS targets, up to 3 …

it (code pays fourni par la source)

RAB32 ‐Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria

Teresa Kleinz, Francesco Cavallieri, Max Borsche, Giulia Toschi et autres

Abstract Background The RAB32 p.Ser71Arg variant is a novel cause of monogenic Parkinson's disease (PD), for which detailed phenotypic information is currently scarce. Objectives Our aim was to clinically and biologically characterize individuals with PARK‐ RAB32 to gain insights into genotype–phenotype relationships, …

de, it, us, gb, es (code pays fourni par la source)

Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation

Francesco Bove, Danilo Genovese, Alessandro De Biase, Alberto Albanese et autres

GBA1 variants represent the most common genetic risk factor for Parkinson's disease (PD) and are associated with higher risk of developing cognitive decline and axial motor impairment. While cognitive outcomes following subthalamic deep brain stimulation (STN-DBS) have recently received growing attention, axial …

it (code pays fourni par la source)

Independent serum metabolomics approaches identify disrupted glutamic acid and serine metabolism in Parkinson’s disease patients

Jacopo Gervasoni, Carmen Marino, Alberto Imarisio, Lavinia Santucci et autres

Whether distinct blood metabolomic profiles can distinguish Parkinson’s disease (PD) patients from healthy controls (HC) is still a matter of debate. Here, we employed ¹H-NMR and UPLC/MS analyses on serum samples from a cohort of PD patients and HC. Compared to HC, …

it, us, gb (code pays fourni par la source)