Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa (Q28115096)

3 January 2017

title

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa (English)

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Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

3 January 2017

main subject

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acetylglucosaminyltransferase activity

GOA release 2020-03-11

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GOA release 2020-03-11

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15

Robert K. Koenekoop

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3 January 2017

12

Dror Sharon

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3 January 2017

Mingchu Xu

1

1 reference

3 January 2017

Takeyuki Yamada

2

1 reference

3 January 2017

Zixi Sun

3

1 reference

3 January 2017

Aiden Eblimit

4

1 reference

3 January 2017

Irma Lopez

5

1 reference

3 January 2017

Feng Wang

6

1 reference

3 January 2017

Hiroshi Manya

7

1 reference

3 January 2017

Shan Xu

8

1 reference

3 January 2017

Li Zhao

9

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3 January 2017

Yumei Li

10

1 reference

3 January 2017

Adva Kimchi

11

1 reference

3 January 2017

Ruifang Sui

13

1 reference

3 January 2017

Tamao Endo

14

1 reference

3 January 2017

Rui Chen

16

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3 January 2017

publication date

15 April 2016

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3 January 2017

published in

Human Molecular Genetics

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3 January 2017

volume

25

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3 January 2017

issue

8

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3 January 2017

page(s)

1479–1488

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Anophthalmia and microphthalmia

3 January 2017

cites work

1 reference

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Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

20 March 2017

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A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

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Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease

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Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1

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20 March 2017

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Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality

20 March 2017

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A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)

20 March 2017

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20 March 2017

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7 April 2017

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Mutations in human IFT140 cause non-syndromic retinal degeneration

7 April 2017

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Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

29 September 2017

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Anomalous Extraocular Muscles with Strabismus

2 June 2018

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Structural analysis of sequences O-linked to mannose reveals a novel Lewis X structure in cranin (dystroglycan) purified from sheep brain

2 June 2018

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Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

2 June 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW022

Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study.

21 January 2018

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Reactive gliosis of astrocytes and Müller glial cells in retina of POMGnT1-deficient mice.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW022

Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW022

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW022

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW022

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW022

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW022

POMGNT1 Is Glycosylated by Mucin-Type O-Glycans.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW022

Mechanisms underlying nystagmus

21 January 2018

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https://pubmed.ncbi.nlm.nih.gov/26908613