Scholar Rock’s Post

For rare diseases, transthyretin amyloidoses (ATTR): VincoAI, successfully generated a 8mer peptide, VTTR-46-8MERNZ, that targets the aggregation of transthyretin (TTR) by computational peptide-protein docking simulations. Although these in-silico results support VincoAI peptide potential as TTR blocker, in vitro and in vivo validation is still needed. #ttr #rarediseases #generativeai #vincoai #vincogen

Deep phenotyping in a longitudinal (2003-2022), two-center cohort study revealed hypoplastic pitted amelogenesis imperfecta as a novel feature associated to Kindler epidermolysis bullosa, caused by recessive inherited pathogenic variants in FERMT1. https://ja.ma/3Vq0VNs

Nanomicelles accumulate in atherosclerotic plaques after enzymatic reactions on their surface. In this Nanoscale cover article Jacob F. Bentzon, Fernando Herranz and colleagues show that phingomyelinase can be used as a biomarker for the delivery of theranostic agents! Find out more in their full article on sphingomyelinase-responsive nanomicelles for targeting atherosclerosis 👇 https://lnkd.in/eWpG8f_X

See the growing body of evidence that supports the role of #ergothioneine as a #longevityvitamin,' with potential wide-ranging benefits for promoting #health and #longevity, including age-related #hearinghealth! Compelling new research from the University of South Florida indicates that #Lergothioneine may slow the progression of age-related #hearingloss in a preclinical rodent model. #Ergothioneine treatment also reduced serum biomarkers related to cochlear inflammation and cell death. Despite the sample size, ergothioneine seemed to increase the #lifespan in these animals. This lifespan finding aligns with the previous study we posted about research in Japan. #wellness Read the study here ⇢ https://bit.ly/3xzzSFB

Centipedes for kidney disease treatment! For many individuals, a venomous centipede might evoke fear. In a recent study, researchers unveiled the discovery of 12 novel quinoline and isoquinoline alkaloids, featuring unique molecular configurations, extracted from dried centipede specimens (Scolopendra subspinipes mutilans). In laboratory cell cultures, these alkaloids exhibited anti-inflammatory properties, with some demonstrating the ability to mitigate renal fibrosis. The researchers believe, these findings offer a promising avenue for the development of kidney disease treatments. #alkaloids #renalfailures #naturalproducts

📃Scientific paper: Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease Abstract: International audience; Rare mutations in genes originally discovered in multigenerational families have been associated with increased risk of Parkinson's disease (PD). The involvement of rare variants in DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 loci has been poorly studied or has produced conflicting results across cohorts. However, they are still being often referred to as "PD genes" and used in different models. To further elucidate the role of these 5 genes in PD, we fully sequenced them using molecular inversion probes in 2408 patients with PD and 3444 controls from 3 different cohorts. A total of 788 rare variants were identified across the 5 genes and 3 cohorts. Burden analyses and optimized sequence Kernel association tests revealed no significant association between any of the genes and PD after correction for multiple comparisons. Our results do not support an association of the 5 tested genes with PD. Combined with previous studies, it is unlikely that any of these genes plays an important role in PD. Their designation as "PARK" genes should be reconsidered. Continued on ES/IODE ➡️ https://etcse.fr/Qjl ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.

📃Scientific paper: Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease Abstract: International audience; Rare mutations in genes originally discovered in multigenerational families have been associated with increased risk of Parkinson's disease (PD). The involvement of rare variants in DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 loci has been poorly studied or has produced conflicting results across cohorts. However, they are still being often referred to as "PD genes" and used in different models. To further elucidate the role of these 5 genes in PD, we fully sequenced them using molecular inversion probes in 2408 patients with PD and 3444 controls from 3 different cohorts. A total of 788 rare variants were identified across the 5 genes and 3 cohorts. Burden analyses and optimized sequence Kernel association tests revealed no significant association between any of the genes and PD after correction for multiple comparisons. Our results do not support an association of the 5 tested genes with PD. Combined with previous studies, it is unlikely that any of these genes plays an important role in PD. Their designation as "PARK" genes should be reconsidered. Continued on ES/IODE ➡️ https://etcse.fr/Qjl ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.

📃Scientific paper: Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease Abstract: International audience; Rare mutations in genes originally discovered in multigenerational families have been associated with increased risk of Parkinson's disease (PD). The involvement of rare variants in DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 loci has been poorly studied or has produced conflicting results across cohorts. However, they are still being often referred to as "PD genes" and used in different models. To further elucidate the role of these 5 genes in PD, we fully sequenced them using molecular inversion probes in 2408 patients with PD and 3444 controls from 3 different cohorts. A total of 788 rare variants were identified across the 5 genes and 3 cohorts. Burden analyses and optimized sequence Kernel association tests revealed no significant association between any of the genes and PD after correction for multiple comparisons. Our results do not support an association of the 5 tested genes with PD. Combined with previous studies, it is unlikely that any of these genes plays an important role in PD. Their designation as "PARK" genes should be reconsidered. Continued on ES/IODE ➡️ https://etcse.fr/Qjl ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.

📃Scientific paper: Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease Abstract: International audience; Rare mutations in genes originally discovered in multigenerational families have been associated with increased risk of Parkinson's disease (PD). The involvement of rare variants in DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 loci has been poorly studied or has produced conflicting results across cohorts. However, they are still being often referred to as "PD genes" and used in different models. To further elucidate the role of these 5 genes in PD, we fully sequenced them using molecular inversion probes in 2408 patients with PD and 3444 controls from 3 different cohorts. A total of 788 rare variants were identified across the 5 genes and 3 cohorts. Burden analyses and optimized sequence Kernel association tests revealed no significant association between any of the genes and PD after correction for multiple comparisons. Our results do not support an association of the 5 tested genes with PD. Combined with previous studies, it is unlikely that any of these genes plays an important role in PD. Their designation as "PARK" genes should be reconsidered. Continued on ES/IODE ➡️ https://etcse.fr/Qjl ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.

Check out a new publication from Dr. Zeeshan Ahmed of IFH and Rutgers Robert Wood Johnson Medical School in Scientific Reports. The team, including Habiba Abdelhalim, Will DeGroat, Ishani Mhatre, Shreya Ashok and Bruce Liang, identified key genes and their susceptibility to #cardiovasculardisease to assist in early diagnosis. #machinelearning #heartfailure #genome #genomicsequencing #artificialintelligence Rutgers Research https://lnkd.in/edSs_Siu