Seipinopathy: a novel endoplasmic reticulum stress-associated disease - Wikidata - awgldk - TriplyDB

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

http://www.wikidata.org/entity/Q28293837

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Pathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradation Charcot-Marie-Tooth disease and intracellular traffic Neuronal endoplasmic reticulum stress in axon injury and neurodegeneration Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling Spartin recruits PKC-ζ via the PKC-ζ-interacting proteins ZIP1 and ZIP3 to lipid droplets Lack of testicular seipin causes teratozoospermia syndrome in men.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Exendin-4 Protects MIN6 Cells from t-BHP-Induced Apoptosis via IRE1-JNK-Caspase-3 Signaling Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.Neuroanatomical characterisation of the expression of the lipodystrophy and motor-neuropathy gene Bscl2 in adult mouse brain Seipin mutation at glycosylation sites activates autophagy in transfected cells via abnormal large lipid droplets generation.Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.Not just fat: the structure and function of the lipid droplet.Seipin: from human disease to molecular mechanism Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis XBP1 depletion precedes ubiquitin aggregation and Golgi fragmentation in TDP-43 transgenic rats.Seipin knockout in mice impairs stem cell proliferation and progenitor cell differentiation in the adult hippocampal dentate gyrus via reduced levels of PPARγ.Motor neuron degeneration in a mouse model of seipinopathy.Endoplasmic reticulum stress-mediated hippocampal neuron apoptosis involved in diabetic cognitive impairment.A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.Cellular pathways of hereditary spastic paraplegia.What the genetics of lipodystrophy can teach us about insulin resistance and diabetes.Proteomic analysis of human substantia nigra identifies novel candidates involved in Parkinson's disease pathogenesis.TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.The collaborative work of droplet assembly.Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission.Characterization of alternative isoforms and inclusion body of the TAR DNA-binding protein-43.Echinacoside's nigrostriatal dopaminergic protection against 6-OHDA-Induced endoplasmic reticulum stress through reducing the accumulation of Seipin.Seipin deficiency leads to increased ER stress and apoptosis in mammary gland alveolar epithelial cells during lactation.Seipin regulates excitatory synaptic transmission in cortical neurons.REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.The expression of SEIPIN in the mouse central nervous system.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS.The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation.

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P2860

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

http://www.wikidata.org/entity/Q28293837

description

2009 nî lūn-bûn

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2009 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2009 թվականի հունվարին հրատարակված գիտական հոդված

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2009年の論文

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年學術文章

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name

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

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Seipinopathy: a novel endoplasmic reticulum stress-associated disease

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Seipinopathy: a novel endoplasmic reticulum stress-associated disease

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Seipinopathy: a novel endoplasmic reticulum stress-associated disease

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Seipinopathy: a novel endoplasmic reticulum stress-associated disease

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Seipinopathy: a novel endoplasmic reticulum stress-associated disease

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Seipinopathy: a novel endoplasmic reticulum stress-associated disease

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Seipinopathy: a novel endoplasmic reticulum stress-associated disease

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Seipinopathy: a novel endoplasmic reticulum stress-associated disease

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Seipinopathy: a novel endoplasmic reticulum stress-associated disease

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P2860

Caspase-12 mediates endoplasmic-reticulum-specific apoptosis and cytotoxicity by amyloid-beta

Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity

ASK1 is essential for endoplasmic reticulum stress-induced neuronal cell death triggered by expanded polyglutamine repeats

Parkin is recruited into aggresomes in a stress-specific manner: over-expression of parkin reduces aggresome formation but can be dissociated from parkin's effect on neuronal survival

Parkin accumulation in aggresomes due to proteasome impairment

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Proapoptotic BAX and BAK modulate the unfolded protein response by a direct interaction with IRE1alpha

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects

Signal integration in the endoplasmic reticulum unfolded protein response

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8-15

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scholarly article

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4420119

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10.1093/BRAIN/AWN216

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Pt 1

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132

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Norihiro Suzuki

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2009-01-01T00:00:00Z

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23255323

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18790819

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endoplasmic reticulum