Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy (Q90060674)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31509666%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

title

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy (English)

1 reference

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11 April 2020

main subject

peripheral neuropathy

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4

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11 April 2020

Tjebo Heeren

10

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11 April 2020

25

Robyn Guymer

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11 April 2020

author name string

Marin L Gantner

1

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11 April 2020

Kevin Eade

2

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11 April 2020

Martina Wallace

3

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11 April 2020

Regis Fallon

5

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11 April 2020

Jennifer Trombley

6

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11 April 2020

Roberto Bonelli

7

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11 April 2020

Sarah Giles

8

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11 April 2020

Sarah Harkins-Perry

9

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11 April 2020

Lydia Sauer

11

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11 April 2020

Yoichiro Ideguchi

12

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11 April 2020

Michelle Baldini

13

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11 April 2020

Lea Scheppke

14

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11 April 2020

Michael I Dorrell

15

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11 April 2020

Maki Kitano

16

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11 April 2020

Barbara J Hart

17

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11 April 2020

Carolyn Cai

18

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11 April 2020

Takayuki Nagasaki

19

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11 April 2020

Mehmet G Badur

20

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11 April 2020

Mali Okada

21

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11 April 2020

Sasha M Woods

22

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11 April 2020

Catherine Egan

23

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11 April 2020

Mark Gillies

24

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11 April 2020

Florian Eichler

26

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11 April 2020

Melanie Bahlo

27

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11 April 2020

Marcus Fruttiger

28

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11 April 2020

Rando Allikmets

29

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11 April 2020

Paul S Bernstein

30

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11 April 2020

Christian M Metallo

31

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11 April 2020

Martin Friedlander

32

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11 April 2020

language of work or name

English

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publication date

11 September 2019

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The New England Journal of Medicine

11 April 2020

published in

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11 April 2020

volume

381

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11 April 2020

issue

15

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11 April 2020

page(s)

1422-1433

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Idiopathic juxtafoveolar retinal telangiectasis. Update of classification and follow-up study.

11 April 2020

cites work

1 reference

12 December 2020

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

1 reference

12 December 2020

Ceramide synthase inhibition by fumonisin B1 causes accumulation of 1-deoxysphinganine: a novel category of bioactive 1-deoxysphingoid bases and 1-deoxydihydroceramides biosynthesized by mammalian cell lines and animals

1 reference

12 December 2020

Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1

1 reference

12 December 2020

The prevalence estimates of macular telangiectasia type 2: the Melbourne Collaborative Cohort Study.

1 reference

12 December 2020

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

1 reference

12 December 2020

The prevalence of macular telangiectasia type 2 in the Beaver Dam eye study

1 reference

12 December 2020

Blood sphingolipidomics in healthy humans: impact of sample collection methodology

1 reference

12 December 2020

Deoxysphingoid bases as plasma markers in diabetes mellitus

1 reference

12 December 2020

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

1 reference

12 December 2020

Analysis of candidate genes for macular telangiectasia type 2

1 reference

12 December 2020

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

1 reference

12 December 2020

"En face" OCT imaging of the IS/OS junction line in type 2 idiopathic macular telangiectasia

1 reference

12 December 2020

Identification of a potential susceptibility locus for macular telangiectasia type 2.

1 reference

12 December 2020

Serine starvation induces stress and p53-dependent metabolic remodelling in cancer cells.

1 reference

12 December 2020

Medical characteristics of patients with macular telangiectasia type 2 (MacTel Type 2) MacTel project report no. 3.

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12 December 2020

Loss of Müller's cells and photoreceptors in macular telangiectasia type 2.

1 reference

12 December 2020

Deoxysphingolipids, novel biomarkers for type 2 diabetes, are cytotoxic for insulin-producing cells

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12 December 2020

Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs

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12 December 2020

Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity

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12 December 2020

Biomarkers of NAFLD progression: a lipidomics approach to an epidemic

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12 December 2020

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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12 December 2020

L-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body Formation

1 reference

12 December 2020

1-Deoxysphingolipids Encountered Exogenously and Made de Novo: Dangerous Mysteries inside an Enigma

1 reference

12 December 2020

Fenofibrate lowers atypical sphingolipids in plasma of dyslipidemic patients: A novel approach for treating diabetic neuropathy?

1 reference

12 December 2020

1-Deoxysphingolipid-induced neurotoxicity involves N-methyl-d-aspartate receptor signaling.

1 reference

12 December 2020

Cytotoxic 1-deoxysphingolipids are metabolized by a cytochrome P450-dependent pathway.

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12 December 2020

Localization of 1-deoxysphingolipids to mitochondria induces mitochondrial dysfunction.

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12 December 2020

Genome-wide analyses identify common variants associated with macular telangiectasia type 2.

1 reference

12 December 2020

CORRELATION OF CLINICAL AND STRUCTURAL PROGRESSION WITH VISUAL ACUITY LOSS IN MACULAR TELANGIECTASIA TYPE 2: MacTel Project Report No. 6-The MacTel Research Group.

1 reference

12 December 2020

LONGITUDINAL CORRELATION OF ELLIPSOID ZONE LOSS AND FUNCTIONAL LOSS IN MACULAR TELANGIECTASIA TYPE 2.

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12 December 2020

Correlation Between Macular Integrity Assessment and Optical Coherence Tomography Imaging of Ellipsoid Zone in Macular Telangiectasia Type 2.

1 reference

12 December 2020

Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro

1 reference

12 December 2020

Genetic Penetrance of Macular Telangiectasia Type 2

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12 December 2020

Fluorescence Lifetime Imaging Ophthalmoscopy: A Novel Way to Assess Macular Telangiectasia Type 2

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12 December 2020

Effect of Ciliary Neurotrophic Factor on Retinal Neurodegeneration in Patients with Macular Telangiectasia Type 2: A Randomized Clinical Trial

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12 December 2020

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12 December 2020