Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology (Q37258104)

19 August 2017

Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology (English)

1 reference

19 August 2017

0 references

David E Sleat

1

1 reference

19 August 2017

Lin Ding

2

1 reference

19 August 2017

Shudan Wang

3

1 reference

19 August 2017

Caifeng Zhao

4

1 reference

19 August 2017

Yanhong Wang

5

1 reference

19 August 2017

Winnie Xin

6

1 reference

19 August 2017

Haiyan Zheng

7

1 reference

19 August 2017

Dirk F Moore

8

1 reference

19 August 2017

Katherine B Sims

9

1 reference

19 August 2017

Peter Lobel

10

1 reference

19 August 2017

language of work or name

1 reference

20 April 2009

1 reference

Molecular & Cellular Proteomics

19 August 2017

1 reference

19 August 2017

8

1 reference

19 August 2017

7

1 reference

19 August 2017

1708-1718

1 reference

Lysosomal proteomics and disease

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Proteomics of the lysosome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Acid phosphatase 5 is responsible for removing the mannose 6-phosphate recognition marker from lysosomal proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Detecting differential and correlated protein expression in label-free shotgun proteomics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

The human brain mannose 6-phosphate glycoproteome: a complex mixture composed of multiple isoforms of many soluble lysosomal proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Open source system for analyzing, validating, and storing protein identification data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

A model for random sampling and estimation of relative protein abundance in shotgun proteomics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Expression Profiler: next generation--an online platform for analysis of microarray data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Identification of HE1 as the second gene of Niemann-Pick C disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Molecular defects in Sanfilippo syndrome type A

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Kufs' disease: a critical reappraisal

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Chloroquine inhibits lysosomal enzyme pinocytosis and enhances lysosomal enzyme secretion by impairing receptor recycling

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

The mannose 6-phosphate glycoprotein proteome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Sanfilippo disease, type A with some features of ceroid lipofuscinosis.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709195

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

3 September 2018

1 reference

https://api.crossref.org/works/10.1074%2FMCP.M900122-MCP200

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FMCP.M900122-MCP200

A primordial RNA modification enzyme: the case of tRNA (m1A) methyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FMCP.M900122-MCP200

Probable Inference, the Law of Succession, and Statistical Inference

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FMCP.M900122-MCP200

Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19383612

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19383612

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification and validation of mannose 6-phosphate glycoproteins in human plasma reveal a wide range of lysosomal and non-lysosomal proteins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19383612

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1074/MCP.M900122-MCP200

1 reference

19 August 2017

1 reference

19 August 2017

1 reference