Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants—mechanisms and therapeutic avenues

Recently a broad range of phenotypic abnormalities related to the neurodevelopmental and neurodegenerative disorder NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures) have been associated with rare single-nucleotide polymorphisms (SNPs) or insertion and deletion variants (Indel) in the intron-less gene IRF2BPL. Up to now, 34 patients have been identified through whole exome sequencing carrying different heterozygous pathogenic variants spanning the intron-less gene from the first polyglutamine tract at the N-terminus to the C3HC4 RING domain of the C-terminus of the protein. As a result, the phenotypic spectrum of the patients is highly heterogeneous and ranges from abnormal neurocognitive development to severe neurodegenerative courses with developmental and seizure-related encephalopathies. While the treatment of IRF2BPL-related disorders has focused on alleviating the patient’s symptoms by symptomatic multidisciplinary management, there has been no prospect of entirely relieving the symptoms of the individual patients. Yet, the recent advancement of CRISPR-Cas9-derived gene editing tools, leading to the generation of base editors (BEs) and prime editors (PEs), provide an encouraging new therapeutic avenue for treating NEDAMSS and other neurodevelopmental and neurodegenerative diseases, which contain SNPs or smaller Indels in post-mitotic cell populations of the central nervous system, due to its ability to generate site-specific DNA sequence modifications without creating double-stranded breaks, and recruiting the non-homologous DNA end joining repair mechanism

Design and Fabrication of TiO₂/Lignocellulosic Carbon Materials:Relevance of Low-temperature Sonocrystallization to Photocatalysts Performance

Cafeteria Buildinghttps://egrove.olemiss.edu/phay_uni/1278/thumbnail.jp

Generation of induced pluripotent stem cells from three individuals with Huntington's disease

Huntington's disease (HD) is a neurodegenerative disorder caused by abnormal glutamine (Q) expansion in the huntingtin protein due to elongated CAG repeats in the gene HTT. We used non-integrative episomal plasmids to generate induced pluripotent stem cells (iPSCs) from three individuals affected by HD: CH1 (58Q), and two twin brothers CH3 (44Q) and CH4 (44Q). The iPSC lines exhibited one healthy HTT allele and one with elongated CAG repeats, as confirmed by PCR and sequencing. All iPSC lines expressed pluripotency markers, exhibited a normal karyotype, and generated cells of the three germ layers in vitro

Unprecedented photocatalytic activity of carbonized leather skin residues containing chromium oxide phases

[EN] Carbonaceous N-containing materials derived from leather skin residues have been found to have unprecedented photocatalytic properties as compared to P25 Evonik, with an interesting degradation potential for contaminants in water (e.g. phenol). The carbonaceous materials were prepared by carbonization of the leather skin residues at different temperatures (180–600 °C). Different crystalline species of Cr2O3 and TiO2 were found in the materials obtained. In spite of a low surface area and phase crystallinity, a thermally treated material at 180 °C containing doped chromium oxides (eskolaite phase) provided remarkably improved activities with respect to classical titania derived materials.Rafael Luque gratefully acknowledges support from the Spanish MICINN via the concession of a RyC contract (ref. RYC 2009-04199) and funding under projects P10- FQM-6711 (Consejeria de Ciencia e Innovacion, 363 Junta de Andalucia) and CTQ2010-18126 and CTQ2011 364 28954-C02-02 (MICINN). Jose M Bermudez acknowledges the support received from the CSIC JAE Program. J.C. Colmenares wants to thank for the Marie Curie International Reintegration Grant within the 7th European Community Framework Programme and also the 2012-2014 science financial resources, granted for the international co-financed project implementation (Project Nr. 473/7.PR/2012, Ministry of Science and Higher Education of Poland).Peer reviewe

Unprecedented photocatalytic activity of carbonized leather skin residues containing chromium oxide phases

[EN] Carbonaceous N-containing materials derived from leather skin residues have been found to have unprecedented photocatalytic properties as compared to P25 Evonik, with an interesting degradation potential for contaminants in water (e.g. phenol). The carbonaceous materials were prepared by carbonization of the leather skin residues at different temperatures (180–600 °C). Different crystalline species of Cr2O3 and TiO2 were found in the materials obtained. In spite of a low surface area and phase crystallinity, a thermally treated material at 180 °C containing doped chromium oxides (eskolaite phase) provided remarkably improved activities with respect to classical titania derived materials.Rafael Luque gratefully acknowledges support from the Spanish MICINN via the concession of a RyC contract (ref. RYC 2009-04199) and funding under projects P10- FQM-6711 (Consejeria de Ciencia e Innovacion, 363 Junta de Andalucia) and CTQ2010-18126 and CTQ2011 364 28954-C02-02 (MICINN). Jose M Bermudez acknowledges the support received from the CSIC JAE Program. J.C. Colmenares wants to thank for the Marie Curie International Reintegration Grant within the 7th European Community Framework Programme and also the 2012-2014 science financial resources, granted for the international co-financed project implementation (Project Nr. 473/7.PR/2012, Ministry of Science and Higher Education of Poland).Peer reviewe

Waste into Fuel—Catalyst and Process Development for MSW Valorisation

The present review paper highlights recent progress in the processing of potential municipal solid waste (MSW) derived fuels. These wastes come from the sieved fraction (∅ < 40 mm), which, after sorting, can differ in biodegradable fraction content ranging from 5–60%. The fuels obtained from these wastes possess volumetric energy densities in the range of 15.6–26.8 MJL−1 and are composed mainly of methanol, ethanol, butanol, and carboxylic acids. Although these waste streams are a cheap and abundant source (and decrease the fraction going to landfills), syngas produced from MSW contains various impurities such as organic compounds, nitrogen oxides, sulfur, and chlorine components. These limit its use for advanced electricity generation especially for heat and power generation units based on high temperature fuel cells such as solid oxide fuel cells (SOFC) or molten carbonate fuel cells (MCFC). In this paper, we review recent research developments in the continuous MSW processing for syngas production specifically concentrating on dry reforming and the catalytic sorbent effects on effluent and process efficiency. A particular emphasis is placed on waste derived biofuels, which are currently a primary candidate for a sustainable biofuel of tomorrow, catalysts/catalytic sorbents with decreased amounts of noble metals, their long term activity, and poison resistance, and novel nano-sorbent materials. In this review, future prospects for waste to fuels or chemicals and the needed research to further process technologies are discussed