A new seipin-associated neurodegenerative syndrome (Q42436840)

31 October 2017

A new seipin-associated neurodegenerative syndrome (English)

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31 October 2017

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14

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31 October 2017

Encarna Guillén-Navarro

1

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31 October 2017

Sofía Sánchez-Iglesias

2

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31 October 2017

Rosario Domingo-Jiménez

3

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31 October 2017

Berta Victoria

4

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31 October 2017

Alejandro Ruiz-Riquelme

5

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31 October 2017

Alberto Rábano

6

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31 October 2017

Lourdes Loidi

7

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31 October 2017

Andrés Beiras

8

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31 October 2017

Blanca González-Méndez

9

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31 October 2017

Adriana Ramos

10

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31 October 2017

Vanesa López-González

11

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31 October 2017

María Juliana Ballesta-Martínez

12

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31 October 2017

Miguel Garrido-Pumar

13

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31 October 2017

Alvaro Ruibal

15

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31 October 2017

Jesús R Requena

16

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31 October 2017

David Araújo-Vilar

17

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31 October 2017

language of work or name

English

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publication date

6 April 2013

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Journal of Medical Genetics

31 October 2017

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31 October 2017

50

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31 October 2017

401-409

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31 October 2017

6

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

31 October 2017

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Acquired and inherited lipodystrophies

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Seipin: from human disease to molecular mechanism

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Seipin is a discrete homooligomer

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Seipin regulates excitatory synaptic transmission in cortical neurons.

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

A New Statistical Method for Haplotype Reconstruction from Population Data

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy.

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Distribution and consensus of branch point signals in eukaryotic genes: a computerized statistical analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Abundance, complexation, and trafficking of Wnt/beta-catenin signaling elements in response to Wnt3a

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

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

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

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/10.1136%2FJMEDGENET-2013-101525

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

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/10.1136%2FJMEDGENET-2013-101525

The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Nuclear bodies in neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Preferential accumulation of N-terminal mutant huntingtin in the nuclei of striatal neurons is regulated by phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

Membrane topology of the human seipin protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101525

10.1136/JMEDGENET-2013-101525

21 January 2018

Identifiers

DOI

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31 October 2017

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