Galactosialidosis: review and analysis of CTSA gene mutations (Q37079230)

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6 March 2020

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6 November 2020

Galactosialidosis: review and analysis of CTSA gene mutations (English)

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lysosomal storage disease

6 March 2020

main subject

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biomedical investigative technique

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Anna Caciotti

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Serena Catarzi

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Rodolfo Tonin

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Carmen Rodriguez Perez

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Helen Michelakakis

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Irene Mavridou

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Maria Alice Donati

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2 August 2013

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Orphanet Journal of Rare Diseases

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on focus list of Wikimedia project

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copyright status

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cites work

Left ventricular "diverticulum" in a patient affected by galactosialidosis

1 reference

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Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease

29 September 2017

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The genomic distribution and local context of coincident SNPs in human and chimpanzee.

29 September 2017

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Enzymatic activity of lysosomal carboxypeptidase (cathepsin) A is required for proper elastic fiber formation and inactivation of endothelin-1

29 September 2017

1 reference

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Mammalian evolution and biomedicine: new views from phylogeny

29 September 2017

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Characterization of molecular recognition features, MoRFs, and their binding partners

29 September 2017

1 reference

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Lysosomal sialidase (neuraminidase-1) is targeted to the cell surface in a multiprotein complex that facilitates elastic fiber assembly

29 September 2017

1 reference

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Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

29 September 2017

1 reference

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Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3737020

Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3737020

Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3737020

The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3737020

Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3737020

Protective protein gene mutations in galactosialidosis

29 September 2017

1 reference

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Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

29 September 2017

1 reference

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Human lysosomal protective protein has cathepsin A-like activity distinct from its protective 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=3737020

A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3737020

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3737020

Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3737020

A case of galactosialidosis with a homozygous Q49R point mutation.

4 September 2018

1 reference

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New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor

4 September 2018

1 reference

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Understanding human disease mutations through the use of interspecific genetic variation

4 September 2018

1 reference

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Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis

4 September 2018

1 reference

12 December 2020

Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis

1 reference

12 December 2020

New mutations in two Dutch patients with early infantile galactosialidosis

1 reference

12 December 2020

A Brazilian galactosialidosis patient given renal transplantation: A case report

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23915561%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

6 March 2020

0 references

1 reference

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6 March 2020

PubMed publication ID

23915561

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23915561%20AND%20SRC:MED&resulttype=core&format=json