KLEIN POSTERNACK, ANDRES DAVID
Preferred name
KLEIN POSTERNACK, ANDRES DAVID
Main Affiliation
Email
andresklein@udd.cl
ORCID
0000-0002-9951-2174
Scopus Author ID
46062217700
19 results
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Item type:Product, Dataset - Genomic modifiers of neurological resilience in a Niemann-Pick C family(United States National Library of Medicine, 2025) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Polygenic scores contribution to Parkinson’s disease comorbidities(Oxford University Press (OUP), 2025); Costin LeuComorbidities are common in Parkinson’s disease and significantly impact the disease progression and management. While polygenic scores have been widely used to assess genetic risk for complex diseases, their role in comorbidity presentation in Parkinson’s disease remains unclear. This study investigates whether genetic predisposition to comorbidities, as measured by polygenic scores, differs between individuals with Parkinson’s disease and the general population and explores how genetic risk influences disease onset and sex-related differences. We analysed data from 4144 individuals with Parkinson’s disease and 370 480 individuals from the general population in the UK Biobank, focusing on four comorbidities with high-quality genome-wide association study data: Type 2 diabetes, major depressive disorder, migraine headaches and epilepsy. We first compared polygenic score distributions between individuals with Parkinson’s disease and the general population. While our findings indicate that comorbidities and polygenic risk scores do not significantly differ between individuals with Parkinson’s disease and the general population, we show an association with disease onset and sex-specific differences. Individuals with earlier disease onset (50–70 years old) had higher genetic risk for major depressive disorder (odds ratio: 2.19, P-value: 1.27 × 10⁻¹⁵) and epilepsy (odds ratio: 1.58, P-value: 0.00845). Additionally, a female participant with Parkinson’s disease exhibited higher genetic risk scores for major depressive disorder (odds ratio: 1.5, P-value: 0.0119) and migraine headaches (odds ratio: 2.1, P-value: 0.0155), while a male participant displayed higher genetic risk scores for Type 2 diabetes (odds ratio: 2.7, P-value: 2.11 × 10⁻¹⁷). Comorbidity-polygenic score did not differ between people with versus without Parkinson’s disease, yet within Parkinson’s disease, a higher genetic burden for specific comorbidities was linked to earlier onset and sex-specific presentation, implicating common variants as modifiers of clinical heterogeneity rather than the primary disease risk. These results enhance our understanding of the genetic influences shaping the broader clinical presentation of Parkinson’s disease and highlight the need for further research into the interplay between genetic risk factors, comorbidities and disease heterogeneity.3Scopus© Citations 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, NPC1 as a Modulator of Disease Severity and Viral Entry of SARSCoV- 2<jats:sec> <jats:title /> <jats:p>The COVID-19 plague is hitting mankind. Several viruses, including SARS-CoV-1, MERS-CoV, EBOV, and SARS-CoV-2, use the endocytic machinery to enter the cell. Genomic variants in NPC1, which encodes for the endo-lysosomal Niemann-Pick type C1 protein, restricts the host-range of viruses in bats and susceptibility to infections in humans. Lack of NPC1 and its pharmacological suppression inhibits many viral infections including SARS-CoV-1 and Type I Feline Coronavirus Infection. Antiviral effects of NPC1-inhibiting drugs for COVID-19 treatment should be explored.</jats:p> </jats:sec>2Scopus© Citations 11 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Polygenic score analysis identifies distinct genetic risk profiles in Alzheimer’s disease comorbidities(Springer Science and Business Media LLC, 2025-04-03)4 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Modifier gene identification reveals therapeutic pathways for adult and childhood dementias(Springer Science and Business Media LLC, 2026-02-16)2Scopus© Citations 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, A Rapamycin Pharmacogenomic Approach for the Childhood Dementia Niemann-Pick C(Wiley, 2026-06-18)3 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, 6Scopus© Citations 8 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder(2020)8Scopus© Citations 40 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Gadolinium Chloride Rescues Niemann–Pick Type C Liver Damage(2018); 1Scopus© Citations 8 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions(2020); A.R. Alvarez1Scopus© Citations 27