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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
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06.11.2023

Structure of the transcribing RNA polymerase II-Elongin complex

Authors Chen Y, Kokic G, Dienemann C, Dybkov O, Urlaub H, Cramer P Journal Nature Structural & Molecular Biology Citation Nat Struct Mol Biol. 2023 Nov 6. Abstract Elongin is a heterotrimeric elongation factor for RNA polymerase (Pol) II transcription that is conserved among metazoa. Here, we report three cryo-EM
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06.11.2023

Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome

Authors Kutschka I, Bertero E, Wasmus C, Xiao K, Yang L, Chen X, Oshima Y, Fischer M, Erk M, Arslan B, Alhasan L, Grosser D, Ermer KJ, Nickel A, Kohlhaas M, Eberl H, Rebs S, Streckfuss-Bömeke K, Schmitz W, Rehling P, Thum T, Higuchi T, Rabinowitz J, Maack C, Dudek
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02.11.2023

Contractility measurements for cardiotoxicity screening with ventricular myocardial slices of pigs

Authors Shi R, Reichardt M, Fiegle DJ, Küpfer LK, Czajka T, Sun Z, Salditt T, Dendorfer A, Seidel T, Bruegmann T Journal Cardiovascular Research Citation Cardiovasc Res. 2023 Nov 2:cvad141. Abstract Aims: Cardiotoxicity is one major reason why drugs do not enter or are withdrawn from the market. Thus, approaches
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Prof. Dr. Ricarda Richter-Dennerlein (Photo: SPförtner/MBExC)

01.11.2023

Ricarda Richter-Dennerlein receives first “Niedersachsen-Impuls-Professur”

Ricarda Richter-Dennerlein, head of the “Biochemistry of Macromolecular Complexes” research group at the Institute of Molecular Biology at the University Medical Center Göttingen (UMG) and member of the MBExC Cluster of Excellence, has been awarded the first “Niedersachsen-Impuls-Professur” funded by the Lower Saxony Ministry of Science and Culture and the
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