Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein - Wikidata - wikimedia - TriplyDB

Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein

Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein

http://www.wikidata.org/entity/Q24793347

about

Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner Familial focal segmental glomerulosclerosis (FSGS)-linked α-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors α-Actinin 4 potentiates nuclear factor κ-light-chain-enhancer of activated B-cell (NF-κB) activity in podocytes independent of its cytoplasmic actin binding function ACTN1 mutations cause congenital macrothrombocytopenia TRPC6 in glomerular health and disease: what we know and what we believe The Impact of Histologic Variants on FSGS Outcomes Crystal Structure of the Actin-Binding Domain of α-Actinin-4 Lys255Glu Mutant Implicated in Focal Segmental Glomerulosclerosis Translating genetic findings in hereditary nephrotic syndrome: the missing loops Disruption of Myosin 1e promotes podocyte injury α-Actinin-4/FSGS1 is required for Arp2/3-dependent actin assembly at the adherens junction Podocyte-associated talin1 is critical for glomerular filtration barrier maintenance.Discovery of new glomerular disease-relevant genes by translational profiling of podocytes in vivo.Pathophysiology and treatment of focal segmental glomerulosclerosis: the role of animal models.Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology.Alpha-actinin-4 and CLP36 protein deficiencies contribute to podocyte defects in multiple human glomerulopathies.A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.Pharmacological targeting of actin-dependent dynamin oligomerization ameliorates chronic kidney disease in diverse animal models.α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.Disease-associated mutant alpha-actinin-4 reveals a mechanism for regulating its F-actin-binding affinity.Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing.Podocyte biology in human disease.Clinical impact of research on the podocyte slit diaphragm.Pathophysiology of focal segmental glomerulosclerosis.Patients with ACTN4 mutations demonstrate distinctive features of glomerular injury.Chapter 19: Mechanical response of cytoskeletal networks.Podocyte actin in health, disease and treatment.The origin and pathogenic consequences of anti-dsDNA antibodies in systemic lupus erythematosus.Pathogenesis and therapy of focal segmental glomerulosclerosis: an update.Podosomal proteins as causes of human syndromes: a role in craniofacial development?Educational paper: the podocytopathies.Relevance of the ACTN4 gene in African-Americans with non-diabetic end-stage renal disease.The role of alpha-actinin-4 in human kidney disease.α Actinin 4 (ACTN4) Regulates Glucocorticoid Receptor-mediated Transactivation and Transrepression in Podocytes.The podocyte cytoskeleton in health and in disease.Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin.TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins.Mice with altered alpha-actinin-4 expression have distinct morphologic patterns of glomerular disease.Podocyte Injury Associated with Mutant α-Actinin-4

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Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein

http://www.wikidata.org/entity/Q24793347

description

2004 nî lūn-bûn

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2004 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2004年の論文

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Alpha-actinin-4-mediated FSGS: ...... degraded cytoskeletal protein

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Alpha-actinin-4-mediated FSGS: ...... degraded cytoskeletal protein

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JOURNAL.PBIO.0020167

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Alpha-actinin-4-mediated FSGS: ...... degraded cytoskeletal protein

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Bradley M Denker

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Claudine H Kos

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June Yao

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Martin R Pollak

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Phillip G Allen

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Tu Cam Le

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P2860

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

Actinin-4, a novel actin-bundling protein associated with cell motility and cancer invasion

Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN

Synaptopodin: an actin-associated protein in telencephalic dendrites and renal podocytes

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

Huntingtin aggregation and toxicity in Huntington's disease

Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo

Mice deficient in alpha-actinin-4 have severe glomerular disease

Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion

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e167

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10.1371/JOURNAL.PBIO.0020167

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2

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Joel M Henderson

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8498863

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