(Q28510746)

25 January 2017

title

Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7 (English)

1 reference

Major facilitator superfamily domain containing 8

25 January 2017

1 reference

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681805%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Laura Brandenstein

1

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681805%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Michaela Schweizer

2

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681805%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Jan Sedlacik

3

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681805%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Jens Fiehler

4

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681805%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

language of work or name

1 reference

15 February 2016

1 reference

25 January 2017

published in

Human Molecular Genetics

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681805%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

25

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681805%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

4

2 references

25 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681805%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

777-791

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681805%20AND%20SRC:MED&resulttype=core&format=json

The relevance of the storage of subunit c of ATP synthase in different forms and models of Batten disease (NCLs).

9 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Integral and associated lysosomal membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

A conditional knockout resource for the genome-wide study of mouse gene function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Tibetan terrier model of canine ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Towards a new understanding of NCL pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

A block of autophagy in lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

21 January 2018

Human NCL Neuropathology

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Common and uncommon pathogenic cascades in lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Gene expression and cellular content of cathepsin D in Alzheimer's disease brain: Evidence for early up-regulation of the endosomal-lysosomal system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Increased activity and altered subcellular distribution of lysosomal enzymes determine neuronal vulnerability in Niemann-Pick type C1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

A gene network regulating lysosomal biogenesis and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Lysosomal membrane permeabilization in cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Lysosomes and lysosomal cathepsins in cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Autophagy in lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Autophagy in neuronal cells: general principles and physiological and pathological functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

Is movement of mannose 6-phosphate-specific receptor triggered by binding of lysosomal enzymes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV615

21 January 2018

Identifiers

DOI

10.1093/HMG/DDV615

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681805%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017