LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease

The Lysosomal Associated Membrane Protein type-2 (LAMP-2) is an abundant lysosomal membrane protein with an important role in immunity, macroautophagy (MA) and chaperone-mediated autophagy (CMA). Mutations within the Lamp2 gene cause Danon disease, an X-linked lysosomal storage disorder characterize...

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Main Authors:	Rothaug, Michelle, Stroobants, Stijn, Schweizer, Michaela, Peters, Judith, Zunke, Friederike, Allerding, Mirka, D’Hooge, Rudi, Saftig, Paul, Blanz, Judith
Format:	Online
Language:	English
Published:	BioMed Central 2015
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359523/

id	pubmed-4359523
recordtype	oai_dc
spelling	pubmed-43595232015-03-15 LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease Rothaug, Michelle Stroobants, Stijn Schweizer, Michaela Peters, Judith Zunke, Friederike Allerding, Mirka D’Hooge, Rudi Saftig, Paul Blanz, Judith Research The Lysosomal Associated Membrane Protein type-2 (LAMP-2) is an abundant lysosomal membrane protein with an important role in immunity, macroautophagy (MA) and chaperone-mediated autophagy (CMA). Mutations within the Lamp2 gene cause Danon disease, an X-linked lysosomal storage disorder characterized by (cardio)myopathy and intellectual dysfunction. The pathological hallmark of this disease is an accumulation of glycogen and autophagic vacuoles in cardiac and skeletal muscle that, along with the myopathy, is also present in LAMP-2-deficient mice. Intellectual dysfunction observed in the human disease suggests a pivotal role of LAMP-2 within brain. LAMP-2A, one specific LAMP-2 isoform, was proposed to be important for the lysosomal degradation of selective proteins involved in neurodegenerative diseases such as Huntington’s and Parkinson’s disease. BioMed Central 2015-01-31 /pmc/articles/PMC4359523/ /pubmed/25637286 http://dx.doi.org/10.1186/s40478-014-0182-y Text en © Rothaug et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Rothaug, Michelle Stroobants, Stijn Schweizer, Michaela Peters, Judith Zunke, Friederike Allerding, Mirka D’Hooge, Rudi Saftig, Paul Blanz, Judith
spellingShingle	Rothaug, Michelle Stroobants, Stijn Schweizer, Michaela Peters, Judith Zunke, Friederike Allerding, Mirka D’Hooge, Rudi Saftig, Paul Blanz, Judith LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease
author_facet	Rothaug, Michelle Stroobants, Stijn Schweizer, Michaela Peters, Judith Zunke, Friederike Allerding, Mirka D’Hooge, Rudi Saftig, Paul Blanz, Judith
author_sort	Rothaug, Michelle
title	LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease
title_short	LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease
title_full	LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease
title_fullStr	LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease
title_full_unstemmed	LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease
title_sort	lamp-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for danon disease
description	The Lysosomal Associated Membrane Protein type-2 (LAMP-2) is an abundant lysosomal membrane protein with an important role in immunity, macroautophagy (MA) and chaperone-mediated autophagy (CMA). Mutations within the Lamp2 gene cause Danon disease, an X-linked lysosomal storage disorder characterized by (cardio)myopathy and intellectual dysfunction. The pathological hallmark of this disease is an accumulation of glycogen and autophagic vacuoles in cardiac and skeletal muscle that, along with the myopathy, is also present in LAMP-2-deficient mice. Intellectual dysfunction observed in the human disease suggests a pivotal role of LAMP-2 within brain. LAMP-2A, one specific LAMP-2 isoform, was proposed to be important for the lysosomal degradation of selective proteins involved in neurodegenerative diseases such as Huntington’s and Parkinson’s disease.
publisher	BioMed Central
publishDate	2015
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359523/
_version_	1613198635064885248

LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease

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