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Laminopathies and the long strange trip from basic cell biology to therapy

Laminopathies and the long strange trip from basic cell biology to therapy

http://www.wikidata.org/entity/Q28251294

about

The nuclear envelopathies and human diseases Loss of a DNA binding site within the tail of prelamin A contributes to altered heterochromatin anchorage by progerin Targeting protein prenylation in progeria Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome Blocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndrome Introducing intermediate filaments: from discovery to disease Mechanosensitive mechanisms in transcriptional regulation Mouse models of laminopathies Post-translational modifications of intermediate filament proteins: mechanisms and functions The nuclear envelope: an intriguing focal point for neurogenetic disease A lamin in lower eukaryotes?Recent advances in animal and human pluripotent stem cell modeling of cardiac laminopathy A trans-acting protein effect causes severe eye malformation in the Mp mouse Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway Current themes in molecular pediatrics: molecular medicine and its applications.Ras history: The saga continues.Is LMNB1 a susceptibility gene for neural tube defects in humans?A progeria mutation reveals functions for lamin A in nuclear assembly, architecture, and chromosome organization.Nucleocytoplasmic connections and deafness.The interaction between nesprins and sun proteins at the nuclear envelope is critical for force transmission between the nucleus and cytoskeleton.Farnesylation of lamin B1 is important for retention of nuclear chromatin during neuronal migration.Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.Reciprocal knock-in mice to investigate the functional redundancy of lamin B1 and lamin B2.Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.Another broken heart: loss of lamina-associated polypeptide 2alpha causes systolic dysfunction.Modulation of the inhibitor properties of dipeptidyl (acyloxy)methyl ketones toward the CaaX proteases.Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency.Intermediate filaments take the heat as stress proteins.Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes.Structure and expression of the maize (Zea mays L.) SUN-domain protein gene family: evidence for the existence of two divergent classes of SUN proteins in plants Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease Serum lipidomics meets cardiac magnetic resonance imaging: profiling of subjects at risk of dilated cardiomyopathy.Attenuated hypertrophic response to pressure overload in a lamin A/C haploinsufficiency mouse Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain Mitotic defects lead to pervasive aneuploidy and accompany loss of RB1 activity in mouse LmnaDhe dermal fibroblasts Direct synthesis of lamin A, bypassing prelamin a processing, causes misshapen nuclei in fibroblasts but no detectable pathology in mice.Nuclear lamins and neurobiology.Do lamin B1 and lamin B2 have redundant functions?Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.

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Laminopathies and the long strange trip from basic cell biology to therapy

http://www.wikidata.org/entity/Q28251294

description

2009 nî lūn-bûn

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2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2009 թվականի հուլիսին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Laminopathies and the long strange trip from basic cell biology to therapy

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Laminopathies and the long strange trip from basic cell biology to therapy

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Laminopathies and the long strange trip from basic cell biology to therapy

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Laminopathies and the long strange trip from basic cell biology to therapy

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Laminopathies and the long strange trip from basic cell biology to therapy

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Laminopathies and the long strange trip from basic cell biology to therapy

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Laminopathies and the long strange trip from basic cell biology to therapy

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Laminopathies and the long strange trip from basic cell biology to therapy

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Journal of Clinical Investigation

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Laminopathies and the long strange trip from basic cell biology to therapy

@en

P2093

Antoine Muchir

http://www.w3.org/2001/XMLSchema#string

Howard J Worman

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Loren G Fong

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Stephen G Young

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P2860

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins

Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

Mammalian prenylcysteine carboxyl methyltransferase is in the endoplasmic reticulum

Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome

Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

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1825-36

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scholarly article

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2084720

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10.1172/JCI37679

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7

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119

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2009-07-01T00:00:00Z

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26656678

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19587457

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2701866

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