Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease (Q24323378)

microvillus inclusion disease

GOA release 2020-03-11

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Marcel Bruinenberg

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Magdalena R Golachowska

object named as

Magdalena R Golachowska

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Janusz Ksiazyk

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Sven C D van IJzendoorn

object named as

Sven C D van IJzendoorn

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author name string

Agata M Szperl

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Andy-Mark W H Thunnissen

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Arend Karrenbeld

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Gerard Dijkstra

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Dick Hoekstra

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David Mercer

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Martin C Wapenaar

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Edmond H H M Rings

Journal of Pediatric Gastroenterology and Nutrition

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language of work or name

English

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publication date

March 2011

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published in

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volume

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issue

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page(s)

307-13

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cites work

Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Microvillous inclusion disease (microvillous atrophy)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Three myosin V structures delineate essential features of chemo-mechanical transduction

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Myosin vb is associated with plasma membrane recycling systems

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

A Rab11/Rip11 protein complex regulates apical membrane trafficking via recycling endosomes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Allosteric communication in myosin V: from small conformational changes to large directed movements

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

A Role of myosin Vb and Rab11-FIP2 in the aquaporin-2 shuttle

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

The multiple lives of NMD factors: balancing roles in gene and genome regulation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Predicting allosteric communication in myosin via a pathway of conserved residues

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Myosin Vb interacts with Rab8a on a tubular network containing EHD1 and EHD3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

The structure of the rigor complex and its implications for the power stroke

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

The subapical compartment: a traffic center in membrane polarity development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Irreversible intestinal failure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Neonatal enteropathies: defining the causes of protracted diarrhea of infancy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Congenital microvillous atrophy: specific diagnostic features

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Familial microvillous atrophy: a clinicopathological survey of 23 cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Navajo microvillous inclusion disease is due to a mutation in MYO5B.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058815

Abnormal expression of brush-border membrane transporters in the duodenal mucosa of two patients with microvillus inclusion disease

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21206382

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Microvillous inclusion disease: ultrastructural variability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21206382

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Microvillus inclusion disease: a genetic defect affecting apical membrane protein traffic in intestinal epithelium

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21206382

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/MPG.0B013E3181EEA177

1 reference

1 reference

1 reference

PubMed publication ID

21206382

1 reference