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HGG Adv 2021 Jul 5;2(3):100034. Epub 2021 May 5.

Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.

Leukodystrophies, genetic neurodevelopmental and/or neurodegenerative disorders of cerebral white matter, result from impaired myelin homeostasis and metabolism. Numerous genes have been implicated in these heterogeneous disorders; however, many individuals remain without a molecular diagnosis. Using whole-exome sequencing, biallelic variants in were uncovered in two unrelated individuals, one with a leukodystrophy and the other who died . Read More

Polymers (Basel) 2020 Oct 31;12(11). Epub 2020 Oct 31.

Department of Chemical Organic Technology and Polymeric Materials, Faculty of Chemical Technology and Engineering, West Pomeranian University of Technology in Szczecin, 70-322 Szczecin, Poland.

Cross-linked potato starch (StMBA) and starch-g-polyacrylamide materials with a high content of natural polymer from 60 to 90 wt.% (St60-St90) were synthesized by double chemical-chemical modification (grafting and cross-linking). Eco-friendly starch absorbents were tested for removal of Cu and Fe from aqueous solutions. Read More

PLoS One 2020 21;15(8):e0238104. Epub 2020 Aug 21.

Glaucoma Center of Excellence, Wilmer Ophthalmological Institute, Johns Hopkins University, Baltimore, Maryland, United States of America.

Purpose: To delineate responses of optic nerve head astrocytes to sustained intraocular pressure (IOP) elevation in mice.

Methods: We elevated IOP for 1 day to 6 weeks by intracameral microbead injection in 4 strains of mice. Astrocyte alterations were studied by transmission electron microscopy (TEM) including immunogold molecular localization, and by laser scanning microscopy (LSM) with immunofluorescence for integrin β1, α-dystroglycan, and glial fibrillary acidic protein (GFAP). Read More

RNA 2020 10 9;26(10):1400-1413. Epub 2020 Jun 9.

Department of Biochemistry, University of Wisconsin-Madison, Madison, Wisconsin 53706, USA.

Eukaryotes possess eight highly conserved Lsm (like Sm) proteins that assemble into circular, heteroheptameric complexes, bind RNA, and direct a diverse range of biological processes. Among the many essential functions of Lsm proteins, the cytoplasmic Lsm1-7 complex initiates mRNA decay, while the nuclear Lsm2-8 complex acts as a chaperone for U6 spliceosomal RNA. It has been unclear how these complexes perform their distinct functions while differing by only one out of seven subunits. Read More

J Proteomics 2020 07 15;223:103822. Epub 2020 May 15.

Department of Cell and Developmental Biology, Institute for Biomedical Sciences, University of São Paulo, São Paulo 05508-000, Brazil. Electronic address:

The unicellular protists of the group Kinetoplastida include the genera Leishmania and Trypanosoma, which are pathogens of invertebrate and vertebrate animals. Despite their medical and economical importance, critical aspects of their biology such as specific molecular characteristics of gene expression regulation are just beginning to be deciphered. Gene expression regulation also depends on post-transcriptional processing steps, such as the trans-splicing process. Read More