(Q36672639)

15 August 2017

Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome (English)

1 reference

15 August 2017

A J Ungewickell

1

1 reference

15 August 2017

P W Majerus

series ordinal

2

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 November 1999

1 reference

Proceedings of the National Academy of Sciences of the United States of America

15 August 2017

1 reference

15 August 2017

96

1 reference

15 August 2017

23

1 reference

15 August 2017

13342-13344

1 reference

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

Coupled inositide phosphorylation and phospholipase D activation initiates clathrin-coat assembly on lysosomes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

Lysosomal enzymes in ocular tissues and diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23949

Acid hydrolases in serum from patients with lysosomal disorders

20 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10557322

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10557322

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.96.23.13342

1 reference

15 August 2017

0 references

1 reference

15 August 2017

PubMed publication ID

10557322

1 reference