Lipid nanoparticle delivers phenylalanine ammonia lyase mRNA to the liver leading to catabolism and clearance of phenylalanine in a phenylketonuria mouse model

Autor: Ramon Diaz-Trelles, Sharon Lee, Kristen Kuakini, Jenny Park, Adrian Dukanovic, Jose A. Gonzalez, Thanhchau Dam, Jae Heon Kim, Jerel Boyd Vega, Marciano Sablad, Priya P. Karmali, Kiyoshi Tachikawa, Padmanabh Chivukula

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100882- (2022)

Phenylketonuria (PKU) is a genetic disorder affecting around 1 in 12,000 live births (1), caused by a mutation in the phenylalanine hydroxylase (PAH) gene in the liver which facilitates the catabolism of phenylalanine (Phe). Without a functional copy

Externí odkaz: https://doaj.org/article/1be292e47d0149edb04f50784cd4065c

Present and future of lipid nanoparticle-mRNA technology in phenylketonuria disease treatment

Autor: Ramon, Diaz-Trelles, Carlos G, Perez-Garcia

Publikováno v: International review of cell and molecular biology. 372

Phenylketonuria (PKU) is a metabolic rare disease characterized by a failure of the body to clear out the high levels of Phenylalanine (Phe), leading to devastating neurological defects and growth retardation. PKU was discovered in 1934 by AsbjrØrn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4933bd9d3c2ed397bc8b9d9578444d41
https://pubmed.ncbi.nlm.nih.gov/36064263

Fine-Tuning of Drp1/Fis1 Availability by AKAP121/Siah2 Regulates Mitochondrial Adaptation to Hypoxia

Autor: Maria Cecilia Scimia, Mark Mercola, Andrew Dillin, Ramon Diaz Trelles, Malcolm R. Wood, Hyungsoo Kim, Deepti S. Wilkinson, David D.L. Bowtell, Ze'ev Ronai

Publikováno v: Molecular Cell. 44:532-544

Defining the mechanisms underlying the control of mitochondrial fusion and fission is critical to understanding cellular adaptation to diverse physiological conditions. Here we demonstrate that hypoxia induces fission of mitochondrial membranes, depe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01df55ba021d8b1b7cdc49bab04262b2
https://doi.org/10.1016/j.molcel.2011.08.045

Deletion of Shp2 Tyrosine Phosphatase in Muscle Leads to Dilated Cardiomyopathy, Insulin Resistance, and Premature Death

Autor: Frederic Princen, C. Ronald Kahn, Dongmei Wu, John C. Reed, Sharon S. Zhang, Wagner M. Zago, Jing Wang, Ju Chen, Mark Mercola, Béatrice Bailly-Maitre, Yan（陈雁） Chen, Emilie Bard, Gary G. Tong, Ramon Diaz Trelles, Gen-Sheng Feng, Farah Sheikh

Publikováno v: Molecular and Cellular Biology. 29:378-388

The intracellular signaling mechanisms underlying the pathogenesis of cardiac diseases are not fully understood. We report here that selective deletion of Shp2, an SH2-containing cytoplasmic tyrosine phosphatase, in striated muscle results in severe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75185c24c572eb8e96e79d45f1ba3a47
https://doi.org/10.1128/mcb.01661-08

Ontogeny of kainate receptor gene expression in the developing rat midbrain and striatum

Autor: Umberto di Porzio, Roberto Pernas-Alonso, G. Luca Colucci d’Amato, V Lilliu, Carla Perrone-Capano, Alessandro Zuddas, Ramon Diaz Trelles

Publikováno v: Molecular brain research 104 (2002): 1–10.
info:cnr-pdr/source/autori:Lilliu V, Perrone-Capano C, Pernas-Alonso R, Diaz Trelles R, Luca Colucci d'Amato G, Zuddas A, di Porzio U./titolo:Ontogeny of kainate receptor gene expression in the developing rat midbrain and striatum/doi:/rivista:Molecular brain research/anno:2002/pagina_da:1/pagina_a:10/intervallo_pagine:1–10/volume:104

Kainate (KA) receptors are a family of ionotropic glutamate receptors, which mediate the excitatory synaptic transmission in various areas of the mammalian CNS. We have studied the expression pattern of the genes encoding for KA receptor subunits (Gl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9497ecb4eef20cdb0d3bb3a2944ea2
https://doi.org/10.1016/s0169-328x(02)00196-1