Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Συγγραφείς: Liu, Z. G., Xin, B. Z., Smith, I. N., Sency, V., Szekely, J., Alkelai, A., Shuldiner, A., Efthymiou, S., Rajabi, F., Coury, S., Brownstein, C. A., Rudnik-Schoeneborn, S., Bruel, A. L., Thevenon, J., Zeidler, S., Jayakar, P., Schmidt, A., Cremer, K., Engels, H., Peters, S. O., Zaki, M. S., Duan, R. Z., Zhu, Changlian, 1964, Xu, Y. R., Gao, C., Sepulveda-Morales, T., Maroofian, R., Alkhawaja, I. A., Khawaja, M., Alhalasah, H., Houlden, H., Madden, J. A., Turchetti, V., Marafi, D., Agrawal, P. B., Schatz, U., Rotenberg, A., Rotenberg, J., Mancini, G. M. S., Bakhtiari, S., Kruer, M., Thiffault, I., Hirsch, S., Hempel, M., Stuehn, L. G., Haack, T. B., Posey, J. E., Lupski, J. R., Lee, H. Y. P., Sarn, N. B., Eng, C., Gonzaga-Jauregui, C., Zhang, B., Wang, H.

Πηγή: Human Molecular Genetics. 32(20):2981-2995

Θεματικοί όροι: Medical Genetics and Genomics, Medicinsk genetik och genomik, X-linked, protein phosphatase 1, glycogen metabolism, developmental, delay, intellectual disability, seizureautism, glycogen-targeting subunit, ectodermal dysplasia, mutations, insulin, glucose, cells, gene, g(m), ptg, Biochemistry & Molecular Biology, Genetics & Heredity

Σύνδεσμος πρόσβασης: https://gup.ub.gu.se/publication/328655

The role of serine/threonine phosphatases in human development: Evidence from congenital disorders

Συγγραφείς: Pieter Vaneynde, Iris Verbinnen, Veerle Janssens

Πηγή: Front Cell Dev Biol
Frontiers in Cell and Developmental Biology, Vol 10 (2022)

Θεματικοί όροι: 0301 basic medicine, INTELLECTUAL DISABILITY, QH301-705.5, PYRUVATE-DEHYDROGENASE PHOSPHATASE, subaward A19-3376-S005, congenital disease, Cell and Developmental Biology, 03 medical and health sciences, WIP1 PHOSPHATASE, GLYCOGEN TARGETING SUBUNIT, CATALYTIC SUBUNIT, Biology (General), REGULATORY SUBUNIT, 0303 health sciences, Science & Technology, sex development disorder, 31 Biological sciences, neurodevelopmental disorders, PROTEIN PHOSPHATASE, Cell Biology, 32 Biomedical and clinical sciences, denovomutation, NOONAN SYNDROME, de novo mutation, 3. Good health, serine/threonine protein phosphatase, NOVO MISSENSE VARIANTS, SMALL-MOLECULE INHIBITORS, Life Sciences & Biomedicine, Developmental Biology

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/36313552
https://doaj.org/article/652110a7a8294a96a5e2363b2d0a43ea

Functions and therapeutic potential of protein phosphatase 1: Insights from mouse genetics

Συγγραφείς: Ferreira, Mónica, Beullens, Monique, Bollen, Mathieu, Van Eynde, Aleyde

Πηγή: Biochim Biophys Acta Mol Cell Res

Θεματικοί όροι: STRUCTURAL BASIS, 0301 basic medicine, Biochemistry & Molecular Biology, 3101 Biochemistry and cell biology, Genotype, HEAT-SHOCK-PROTEIN, MICE LACKING, 0601 Biochemistry and Cell Biology, human disease-associated phenotypes, Article, Substrate Specificity, Mice, 03 medical and health sciences, BIDIRECTIONAL SYNAPTIC PLASTICITY, NUCLEAR INHIBITOR, CARDIAC-FUNCTION, Protein phosphatase 1, 1108 Medical Microbiology, Protein Phosphatase 1, Animals, Humans, Protein Isoforms, Disease, EARLY EMBRYONIC-DEVELOPMENT, Phosphorylation, 0303 health sciences, Science & Technology, GLYCOGEN-TARGETING SUBUNIT, PP1 interacting proteins (PIP), Cell Biology, Reverse Genetics, 3. Good health, mouse genetics, Alternative Splicing, Phenotype, Models, Animal, REGULATORY PROTEIN, structural reverse genetics, Holoenzymes, Life Sciences & Biomedicine, GROWTH ARREST

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/30056088
https://www.sciencedirect.com/science/article/abs/pii/S016748891830209X
https://pubmed.ncbi.nlm.nih.gov/30056088/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7114192
https://www.sciencedirect.com/science/article/pii/S016748891830209X
https://europepmc.org/article/MED/30056088

The hepatic PP1 glycogen‐targeting subunit interaction with phosphorylase a can be blocked by C‐terminal tyrosine deletion or an indole drug

Συγγραφείς: Kelsall, Ian R., Munro, Shonagh, Hallyburton, Irene, Treadway, Judith L., Cohen, Patricia T. W.

Πηγή: FEBS Letters. 581:4749-4753

Θεματικοί όροι: Liver Form, 0301 basic medicine, Indoles, Molecular Sequence Data, Glycogen-targeting subunit, Calorimetry, Glycogen Phosphorylase, Liver Form, Mice, 03 medical and health sciences, Protein phosphatase 1, Animals, Humans, Amino Acid Sequence, 0303 health sciences, Glycogen Phosphorylase, Diabetes, Glycogen phosphorylase, Titrimetry, Phenylbutyrates, Rats, Protein Subunits, Mutation, Thermodynamics, Tyrosine, CP-316819, Rabbits, Glycogen metabolism, Protein Binding

Σύνδεσμος πρόσβασης: https://febs.onlinelibrary.wiley.com/doi/pdfdirect/10.1016/j.febslet.2007.08.073
https://pubmed.ncbi.nlm.nih.gov/17870073
http://onlinelibrary.wiley.com/doi/10.1016/j.febslet.2007.08.073/full
https://febs.onlinelibrary.wiley.com/doi/full/10.1016/j.febslet.2007.08.073
https://core.ac.uk/display/30661056
https://europepmc.org/abstract/MED/17870073
https://discovery.dundee.ac.uk/en/publications/the-hepatic-pp1-glycogen-targeting-subunit-interaction-with-phosp
https://www.ncbi.nlm.nih.gov/pubmed/17870073

Disruption of the allosteric phosphorylase a regulation of the hepatic glycogen-targeted protein phosphatase 1 improves glucose tolerance in vivo

Συγγραφείς: Kelsall, Ian R., Rosenzweig, Doron, Cohen, Patricia T.W. ^⁎

Πηγή: In Cellular Signalling 2009 21(7):1123-1134

The skeletal muscle-specific glycogen-targeted protein phosphatase 1 plays a major role in the regulation of glycogen metabolism by adrenaline in vivo

Συγγραφείς: Toole, Barry J., Cohen, Patricia T.W. ^⁎

Πηγή: In Cellular Signalling May 2007 19(5):1044-1055

Identification and expression of alternative splice variants of the mouse Ppp1r3b gene in lung epithelial cells

Συγγραφείς: Niimi, Tomoaki ^{a, ⁎}, Kurotani, Reiko ^b, Kimura, Shioko ^b, Kitagawa, Yasuo ^a

Πηγή: In Biochemical and Biophysical Research Communications 20 October 2006 349(2):588-596

Evaluating the Glycogenic Activity and Therapeutic Capacity of PPP1R3D in a Mouse Model of Lafora Disease

Συγγραφείς: Israelian, Lori

Συνεισφορές: Minassian, Berge A, Scherer, Stephen W, Medical Science

Θεματικοί όροι: glycogen, glycogen targeting subunit, lafora bodies, Lafora disease, neurology, PPP1R3D

Time: 0487

Περιγραφή αρχείου: application/pdf

Relation: http://hdl.handle.net/1807/91447

Διαθεσιμότητα: http://hdl.handle.net/1807/91447

Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease.

Συγγραφείς: Israelian L; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada., Nitschke S; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Wang P; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada., Zhao X; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada., Perri AM; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada., Lee JPY; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada., Verhalen B; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Nitschke F; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Minassian BA; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Πηγή: Journal of neurochemistry [J Neurochem] 2021 Jun; Vol. 157 (6), pp. 1897-1910. Date of Electronic Publication: 2020 Oct 10.

Τύπος έκδοσης: Journal Article; Research Support, N.I.H., Extramural

Στοιχεία περιοδικού: Publisher: Wiley on behalf of the International Society for Neurochemistry Country of Publication: England NLM ID: 2985190R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-4159 (Electronic) Linking ISSN: 00223042 NLM ISO Abbreviation: J Neurochem Subsets: MEDLINE

Ιατρικοί όροι (MeSH): Disease Models, Animal*, Lafora Disease/*metabolism , Myocardium/*metabolism , Neurons/*metabolism , Protein Phosphatase 1/*deficiency, Animals ; Brain/metabolism ; Brain/pathology ; Female ; Glycogen/metabolism ; Humans ; Lafora Disease/genetics ; Lafora Disease/pathology ; Male ; Mice ; Mice, 129 Strain ; Mice, Inbred C57BL ; Mice, Knockout ; Myocardium/pathology ; Neurons/pathology ; Protein Phosphatase 1/genetics