Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein (Q28592315)

31 January 2017

title

Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein (English)

1 reference

Family with sequence similarity 126, member A

31 January 2017

main subject

1 reference

GOA release 2020-03-11

Floriana Fruscione

5

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Sonia Scarfì

Sonia Scarfì

8

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Lucilla Nobbio

Lucilla Nobbio

15

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Federico Zara

Federico Zara

12

0 references

Federica Sotgia

10

Federica Sotgia

1 reference

31 January 2017

14

Michael P. Lisanti

1 reference

31 January 2017

1

Elisabetta Gazzerro

1 reference

31 January 2017

7

Roberta Biancheri

1 reference

31 January 2017

Simona Baldassari

2

1 reference

31 January 2017

Caterina Giacomini

3

1 reference

31 January 2017

Veronica Musante

4

1 reference

31 January 2017

Veronica La Padula

6

1 reference

31 January 2017

Valeria Prada

9

1 reference

31 January 2017

Ian D. Duncan

11

1 reference

31 January 2017

Hauke B. Werner

13

1 reference

31 January 2017

Anna Corradi

16

1 reference

31 January 2017

Carlo Minetti

17

1 reference

31 January 2017

language of work or name

English

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publication date

1 January 2012

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31 January 2017

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31 January 2017

volume

7

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31 January 2017

issue

3

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31 January 2017

page(s)

e32180

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Creative Commons Attribution 4.0 International

31 January 2017

copyright license

start time

26 March 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Dysregulation of the Wnt pathway inhibits timely myelination and remyelination in the mammalian CNS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Control of peripheral nerve myelination by the beta-secretase BACE1

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Neuregulin-1 type III determines the ensheathment fate of axons

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Axonal neuregulin-1 regulates myelin sheath thickness

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

High-throughput engineering of the mouse genome coupled with high-resolution expression analysis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

The neurotrophin receptor p75NTR as a positive modulator of myelination

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

A new mathematical model for relative quantification in real-time RT-PCR

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

A transcriptome database for astrocytes, neurons, and oligodendrocytes: a new resource for understanding brain development and function

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Signals to promote myelin formation and repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Axonal prion protein is required for peripheral myelin maintenance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

The role of CNS glia in preserving axon function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Review of Alexander disease: beyond the classical concept of leukodystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Neuregulin-1/ErbB signaling serves distinct functions in myelination of the peripheral and central nervous system.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Axon-glial signaling and the glial support of axon function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Classification of childhood white matter disorders using proton MR spectroscopic imaging

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Genetic disorders affecting white matter in the pediatric age.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

The latest on leukodystrophies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Separation of functional Schwann cells and neurons from normal peripheral nerve tissue

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

P2X7-mediated increased intracellular calcium causes functional derangement in Schwann cells from rats with CMT1A neuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Invited article: an MRI-based approach to the diagnosis of white matter disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

Hypomyelination versus delayed myelination

3 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032180

Phenotypic characterization of hypomyelination and congenital cataract.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032180

Single-cell detection of microRNAs in developing vertebrate embryos after acute administration of a dual-fluorescence reporter/sensor plasmid.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032180

Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032180

Diagnosing "undiagnosed" leukodystrophies: The role of molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032180

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032180

Central and peripheral nervous system dysfunction in the clinical variation of Salla disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032180

The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032180

Improved in situ ?-galactosidase staining for histological analysis of transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0032180

Expression of the trembler mouse mutation in organotypic cultures of dorsal root ganglia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3312879

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/22461884

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract

1 reference

https://pubmed.ncbi.nlm.nih.gov/22461884

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0032180

1 reference

31 January 2017

0 references

0 references

1 reference