(Q50074864)

24 February 2018

title

Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients. (English)

1 reference

24 February 2018

author

Michael Schwake

3

1 reference

24 February 2018

Zbigniew K Wszolek

5

object named as

Zbigniew K Wszolek

1 reference

24 February 2018

Clarissa Valdez

1

1 reference

24 February 2018

Yvette C Wong

2

1 reference

24 February 2018

Guojun Bu

4

1 reference

24 February 2018

Dimitri Krainc

6

1 reference

24 February 2018

publication date

25 September 2017

1 reference

24 February 2018

published in

Human Molecular Genetics

1 reference

24 February 2018

volume

26

1 reference

24 February 2018

issue

24

1 reference

24 February 2018

page(s)

4861-4872

1 reference

24 February 2018

Regulation of cathepsin D activity by the FTLD protein progranulin.

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Progranulin inhibits expression and release of chemokines CXCL9 and CXCL10 in a TNFR1 dependent manner

8 September 2018

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Possible involvement of lysosomal dysfunction in pathological changes of the brain in aged progranulin-deficient mice

8 September 2018

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8 September 2018

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Development and validation of pedigree classification criteria for frontotemporal lobar degeneration

8 September 2018

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Genetics of frontotemporal lobar degeneration: an up-date and diagnosis algorithm

8 September 2018

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8 September 2018

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Increased lysosomal biogenesis in activated microglia and exacerbated neuronal damage after traumatic brain injury in progranulin-deficient mice.

8 September 2018

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Rapid single-step induction of functional neurons from human pluripotent stem cells

8 September 2018

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8 September 2018

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Cellular ageing, increased mortality and FTLD-TDP-associated neuropathology in progranulin knockout mice

8 September 2018

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Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

8 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Progranulin, a glycoprotein deficient in frontotemporal dementia, is a novel substrate of several protein disulfide isomerase family proteins

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Progranulin promotes neurite outgrowth and neuronal differentiation by regulating GSK-3β.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Progranulin expression in the developing and adult murine brain.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

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

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

The heritability and genetics of frontotemporal lobar degeneration.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

TDP-43 redistribution is an early event in sporadic amyotrophic lateral sclerosis.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Structure dissection of human progranulin identifies well-folded granulin/epithelin modules with unique functional activities

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Cathepsin D deficiency is associated with a human neurodegenerative disorder

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

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

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

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

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Progranulin is a mediator of the wound response

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Progranulin (PC-cell-derived growth factor/acrogranin) regulates invasion and cell survival.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

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

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Inheritance of frontotemporal dementia

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Acid beta-glucosidase: intrinsic fluorescence and conformational changes induced by phospholipids and saposin C.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Saposins (sap) A and C activate the degradation of galactosylceramide in living cells

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Immunocytochemical localization of cathepsin D in rat neural tissue

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Saposin D: a sphingomyelinase activator

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

The distribution of cathepsin D activity in adult and aging human brain regions

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Saposins: structure, function, distribution, and molecular genetics

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Lysosomes and Protein Degradation

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

The Activator of Cerebroside Sulphatase. Purification from Human Liver and Identification as a Protein

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5886207

Progranulin gene mutation with an unusual clinical and neuropathologic presentation

8 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDX364

Synaptic dysfunction in progranulin-deficient mice

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDX364

TDP-43 and FUS: a nuclear affair

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29036611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Regulation of intracellular protein degradation in IMR-90 human diploid fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29036611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Limited proteolysis of NACP/alpha-synuclein

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29036611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDX364

1 reference

24 February 2018

PMC publication ID

5886207

0 references

1 reference

24 February 2018