(Q48937170)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26831127%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Clinical, biochemical and molecular characterization of prosaposin deficiency (English)

1 reference

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6 March 2020

8

1 reference

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6 March 2020

Marco Tartaglia

9

1 reference

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6 March 2020

Giulia Polo

6

1 reference

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6 March 2020

author name string

M Motta

1

1 reference

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6 March 2020

M Tatti

2

1 reference

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6 March 2020

F Furlan

3

1 reference

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6 March 2020

A Celato

4

1 reference

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6 March 2020

G Di Fruscio

5

1 reference

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6 March 2020

R Manara

7

1 reference

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6 March 2020

A Burlina

10

1 reference

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6 March 2020

R Salvioli

11

1 reference

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6 March 2020

publication date

19 February 2016

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6 March 2020

1 reference

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6 March 2020

volume

90

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6 March 2020

issue

3

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6 March 2020

page(s)

220-229

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Isolation and characterization of prosaposin from human milk

6 March 2020

cites work

1 reference

Secretion of sphingolipid hydrolase activator precursor, prosaposin

21 January 2018

1 reference

Sphingolipids and lysosomal pathologies

21 January 2018

1 reference

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

21 January 2018

1 reference

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

21 January 2018

1 reference

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses

21 January 2018

1 reference

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation

21 January 2018

1 reference

Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin

21 January 2018

1 reference

Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.

21 January 2018

1 reference

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

21 January 2018

1 reference

LC-MS/MS analysis of plasma lyso-Gb3 in Fabry disease.

21 January 2018

1 reference

Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study

21 January 2018

1 reference

Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation

21 January 2018

1 reference

Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects

21 January 2018

1 reference

A block of autophagy in lysosomal storage disorders

21 January 2018

1 reference

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.

21 January 2018

1 reference

Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI.

21 January 2018

1 reference

LC3- and p62-based biochemical methods for the analysis of autophagy progression in mammalian cells

21 January 2018

1 reference

Nonsense-mediated mRNA decay (NMD) mechanisms

21 January 2018

1 reference

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

21 January 2018

1 reference

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

21 January 2018

1 reference