Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
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group |
BEFREE |
Mutations in the GRN gene can lead to frontotemporal lobar degeneration (FTLD), a cause of dementia, and neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease.
|
30862089 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Individuals with loss-of-function mutations on both GRN alleles develop neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disorder.
|
30448285 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Heterozygous loss-of-function mutations in the progranulin gene (GRN) lead to frontotemporal lobar degeneration (FTLD) while the complete loss of progranulin (PGRN) function results in neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease.
|
30180904 |
2018 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Homozygous GRN mutation carriers develop neuronal ceroid lipofuscinosis (NCL), an earlier-onset lysosomal storage disorder caused by severe lysosomal dysfunction.
|
29929528 |
2018 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Recent reports that progranulin (PGRN) functions as a chaperone of lysosomal enzymes and its deficiency is associated with LSDs, including Gaucher disease and neuronal ceroid lipofuscinosis, prompted us to screen the effects of recombinant PGRN on lysosomal storage in fibroblasts from 11 patients affected by various LSDs, which led to the isolation of TSD in which PGRN demonstrated the best effects in reducing lysosomal storage.
|
30341570 |
2018 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, growing evidence suggests a role for PGRN in the lysosome-most striking being that homozygous GRN mutation leads to neuronal ceroid lipofuscinosis, a lysosomal storage disease.
|
29744576 |
2018 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Homozygous <i>GRN</i> mutations, on the other hand, lead to complete PGRN loss and cause neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease usually seen in children.
|
28404863 |
2017 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Receptor-mediated lysosomal targeting has been shown to regulate brain PGRN levels, and complete deficiency of PGRN is a direct cause of neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease.
|
28743268 |
2017 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Haploinsufficiency of progranulin (PGRN) due to mutations in the granulin (GRN) gene causes frontotemporal lobar degeneration (FTLD), and complete loss of PGRN leads to a lysosomal storage disorder, neuronal ceroid lipofuscinosis (NCL).
|
28541286 |
2017 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The discovery that heterozygous and homozygous mutations in the gene encoding progranulin are causally linked to frontotemporal dementia and lysosomal storage disease, respectively, reveals previously unrecognized roles of the progranulin protein in regulating lysosome biogenesis and function.
|
28435163 |
2017 |
Lysosomal Storage Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Heterozygous mutations in progranulin (PGRN) cause familial FTD and result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN expression and lead to the neurodegenerative lysosomal storage disorder neuronal ceroid lipofuscinosis (NCL).
|
29036611 |
2017 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
These findings not only demonstrate that PGRN is a co-chaperone of HSP70 and plays an important role in GCase lysosomal localization, but may also provide new therapeutic interventions for lysosomal storage diseases, in particular GD.
|
27789271 |
2016 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recently, it has been shown that a complete GRN deficiency due to a homozygous GRN loss-of-function mutation causes neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disorder.
|
24619111 |
2014 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
It has been shown that progranulin (PGRN) deficiency causes age-related neurodegenerative diseases such as frontotemporal lobar degeneration (FTLD) and neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease.
|
25022663 |
2014 |