(Q28293837)

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Seipin: a mysterious protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

An undiagnosed endocrinometabolic syndrome: report of 2 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

A selective inhibitor of eIF2alpha dephosphorylation protects cells from ER stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Chemical chaperones reduce endoplasmic reticulum stress and prevent mutant HFE aggregate formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Caspase-12 and endoplasmic reticulum stress mediate neurotoxicity of pathological prion protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Up-regulation of the Ire1-mediated signaling molecule, Bip, in ischemic rat brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Characterization of stanniocalcin 2, a novel target of the mammalian unfolded protein response with cytoprotective properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Parkin accumulation in aggresomes due to proteasome impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Stress signaling from the lumen of the endoplasmic reticulum: coordination of gene transcriptional and translational controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Spinal cord endoplasmic reticulum stress associated with a microsomal accumulation of mutant superoxide dismutase-1 in an ALS model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Aggresomes, inclusion bodies and protein aggregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

21 January 2018

Conformational disease

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Suppressive effects of 4-phenylbutyrate on the aggregation of Pael receptors and endoplasmic reticulum stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

ER stress and neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

The unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Neurodegenerative disease: neuron protection agency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Signal integration in the endoplasmic reticulum unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

38. Congenital Hyperpituitarism of Hypothalamic Origin; A new Diencephalic Syndrome with Endocrine Manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

The unfolded protein response--a stress signaling pathway of the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Huntington's disease intranuclear inclusions contain truncated, ubiquitinated huntingtin protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

A novel inhibitor of advanced glycation and endoplasmic reticulum stress reduces infarct volume in rat focal cerebral ischemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Aggresomes formed by alpha-synuclein and synphilin-1 are cytoprotective

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Mutant SOD1 linked to familial amyotrophic lateral sclerosis, but not wild-type SOD1, induces ER stress in COS7 cells and transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Aggregates in neurodegenerative disease: crowds and power?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

ER stress and UPR in familial amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by site-2 protease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

The unfolded protein response: a stress signaling pathway critical for health and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Endoplasmic reticulum stress in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

Membrane topology of the human seipin protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN216

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWN216

1 reference

Consolidated OpenCitations Corpus – April 2017

release_mgfxmy5idjb7baqkrqqw7ifmie

4420119

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mgfxmy5idjb7baqkrqqw7ifmie

mapped directly with Wikidata item

24 November 2022

based on heuristic

4420119

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference