2023

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27.11.2023

A dual-targeted drug inhibits cardiac ryanodine receptor Ca2+ leak but activates SERCA2a Ca2+ uptake

Authors Wegener JW, Mitronova GY, ElShareif L, Quentin C, Belov V, Pochechueva T, Hasenfuss G, Ackermann L, Lehnart SE Journal Life Science Alliance Citation Life Sci Alliance. 2023 Nov 27;7(2):e202302278. Abstract In the heart, genetic or acquired mishandling of diastolic [Ca2+] by ryanodine receptor type 2 (RyR2) overactivity correlates with
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21.11.2023

Unraveling haplotype errors in the DFNA33 locus

Authors Vona B, Regele S, Rad A, Strenzke N, Pater JA, Neumann K, Sturm M, Haack TB, Am Zehnhoff-Dinnesen AG Journal Frontiers in Genetics Citation Front. Genet. 14:1214736. Abstract Genetic heterogeneity makes it difficult to identify the causal genes for hearing loss. Studies from previous decades have mapped numerous genetic
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17.11.2023

The SARS-CoV-2 protein ORF3c is a mitochondrial modulator of innate immunity

Authors Stewart H, Lu Y, O’Keefe S, Valpadashi A, Cruz-Zaragoza LD, Michel HA, Nguyen SK, Carnell GW, Lukhovitskaya N, Milligan R, Adewusi Y, Jungreis I, Lulla V, Matthews DA, High S, Rehling P, Emmott E, Heeney JL, Davidson AD, Edgar JR, Smith GL, Firth AE Journal iScience Citation iScience. 2023
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17.11.2023

Prediction mismatch responses arise as corrections of a predictive spiking code

Authors van Driel K, Rudelt L, Priesemann V, Mikulasch FA Journal Biorxiv Citation bioRxiv 2023.11.16.567335. Abstract Prediction mismatch responses in cortex seem to signal the difference between an internal model of the animal and sensory observations. Often these responses are interpreted as evidence for the existence of error neurons, which
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16.11.2023

Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings

Authors Kalay I, Aykut H, Caliskan Z, Yigit G, Wollnik B Journal Molecular Genetics and Metabolism Reports Citation Mol Genet Metab Rep. 2023 Nov 16;37:101022. Abstract Lysinuric protein intolerance (LPI) is a rare, inherited aminoaciduria caused by biallelic pathogenic variants in the amino acid transporter gene SLC7A7 (OMIM *603593). Individuals
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14.11.2023

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Authors Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O’Connor N, Bhoj EJ, Harr MH, Lemire
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13.11.2023

Tazarotene and Bexarotene Show Efficacy as In Vitro Therapeutic Agents in Multiple Sulfatase Deficiency

Authors Schlotawa l, Matysiak K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregola J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J Journal Neuropediatrics Citation Neuropediatrics 2023; 54(S 01):
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10.11.2023

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Authors Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun
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A mouse egg cell, naturally filled with the protein PADI6 (blue) – a marker and main component of the cytoplasmic lattice. The DNA in the cell nucleus is shown in magenta. Courtesy: Jentoft/Schuh, Max-Planck-Institute for Multidisciplinary Sciences

06.11.2023

Protein stock for the beginning of a new life

How mysterious structures in the egg cell supply the early embryo as protein storage sites   When mammals have offspring, they invest a lot. Unlike fish or frogs, the embryo cannot develop on its own. It has to implant in the uterus, where it is supplied with everything it needs
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A mouse egg cell, naturally filled with the protein PADI6 (blue) – a marker and main component of the cytoplasmic lattice. The DNA in the cell nucleus is shown in magenta. Courtesy: Jentoft/Schuh, Max-Planck-Institute for Multidisciplinary Sciences

06.11.2023

Protein stock for the beginning of a new life

How mysterious structures in the egg cell supply the early embryo as protein storage sites When mammals have offspring, they invest a lot. Unlike fish or frogs, the embryo cannot develop on its own. It has to implant in the uterus, where it is supplied with everything it needs to
Learn More
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