TECPR2: A new autophagy link for neurodegeneration
Autophagy dysfunction has been implicated in a group of progressive neurodegenerative diseases, and has been reported to play a major role in the pathogenesis of these disorders. We have recently reported a recessive mutation in TECPR2, an autophagy-implicated WD repeat-containing protein, in five i...
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| Veröffentlicht in: | Autophagy 2013-05, Vol.9 (5), p.801-802 |
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| container_title | Autophagy |
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| creator | Oz-Levi, Danit Gelman, Amir Elazar, Zvulun Lancet, Doron |
| description | Autophagy dysfunction has been implicated in a group of progressive neurodegenerative diseases, and has been reported to play a major role in the pathogenesis of these disorders. We have recently reported a recessive mutation in TECPR2, an autophagy-implicated WD repeat-containing protein, in five individuals with a novel form of monogenic hereditary spastic paraparesis (HSP). We found that diseased skin fibroblasts had a decreased accumulation of the autophagy-initiation protein MAP1LC3B/LC3B, and an attenuated delivery of both LC3B and the cargo-recruiting protein SQSTM1/p62 to the lysosome where they are subject to degradation. The discovered TECPR2 mutation reveals for the first time a role for aberrant autophagy in a major class of Mendelian neurodegenerative diseases, and suggests mechanisms by which impaired autophagy may impinge on a broader scope of neurodegeneration. |
| doi_str_mv | 10.4161/auto.23961 |
| format | Article |
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We have recently reported a recessive mutation in TECPR2, an autophagy-implicated WD repeat-containing protein, in five individuals with a novel form of monogenic hereditary spastic paraparesis (HSP). We found that diseased skin fibroblasts had a decreased accumulation of the autophagy-initiation protein MAP1LC3B/LC3B, and an attenuated delivery of both LC3B and the cargo-recruiting protein SQSTM1/p62 to the lysosome where they are subject to degradation. The discovered TECPR2 mutation reveals for the first time a role for aberrant autophagy in a major class of Mendelian neurodegenerative diseases, and suggests mechanisms by which impaired autophagy may impinge on a broader scope of neurodegeneration.</description><identifier>ISSN: 1554-8627</identifier><identifier>EISSN: 1554-8635</identifier><identifier>DOI: 10.4161/auto.23961</identifier><identifier>PMID: 23439247</identifier><language>eng</language><publisher>United States: Taylor & Francis</publisher><subject>Autophagic Punctum ; Autophagy ; endosomal trafficking ; exome sequencing ; HeLa Cells ; hereditary spastic paraparesis ; Humans ; MAP1LC3 ; Mitochondria - metabolism ; Mutation - genetics ; Nerve Tissue Proteins - genetics ; Nerve Tissue Proteins - metabolism ; Neurodegenerative Diseases - metabolism ; Neurodegenerative Diseases - pathology ; Paraparesis, Spastic - genetics ; Paraparesis, Spastic - pathology ; Proteolysis ; Signal Transduction ; skin fibroblasts</subject><ispartof>Autophagy, 2013-05, Vol.9 (5), p.801-802</ispartof><rights>Copyright © 2013 Landes Bioscience 2013</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669195/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669195/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27922,27923,53789,53791</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23439247$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Oz-Levi, Danit</creatorcontrib><creatorcontrib>Gelman, Amir</creatorcontrib><creatorcontrib>Elazar, Zvulun</creatorcontrib><creatorcontrib>Lancet, Doron</creatorcontrib><title>TECPR2: A new autophagy link for neurodegeneration</title><title>Autophagy</title><addtitle>Autophagy</addtitle><description>Autophagy dysfunction has been implicated in a group of progressive neurodegenerative diseases, and has been reported to play a major role in the pathogenesis of these disorders. We have recently reported a recessive mutation in TECPR2, an autophagy-implicated WD repeat-containing protein, in five individuals with a novel form of monogenic hereditary spastic paraparesis (HSP). We found that diseased skin fibroblasts had a decreased accumulation of the autophagy-initiation protein MAP1LC3B/LC3B, and an attenuated delivery of both LC3B and the cargo-recruiting protein SQSTM1/p62 to the lysosome where they are subject to degradation. The discovered TECPR2 mutation reveals for the first time a role for aberrant autophagy in a major class of Mendelian neurodegenerative diseases, and suggests mechanisms by which impaired autophagy may impinge on a broader scope of neurodegeneration.</description><subject>Autophagic Punctum</subject><subject>Autophagy</subject><subject>endosomal trafficking</subject><subject>exome sequencing</subject><subject>HeLa Cells</subject><subject>hereditary spastic paraparesis</subject><subject>Humans</subject><subject>MAP1LC3</subject><subject>Mitochondria - metabolism</subject><subject>Mutation - genetics</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Nerve Tissue Proteins - metabolism</subject><subject>Neurodegenerative Diseases - metabolism</subject><subject>Neurodegenerative Diseases - pathology</subject><subject>Paraparesis, Spastic - genetics</subject><subject>Paraparesis, Spastic - pathology</subject><subject>Proteolysis</subject><subject>Signal Transduction</subject><subject>skin fibroblasts</subject><issn>1554-8627</issn><issn>1554-8635</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkMlKA0EQhhtxSYxefADPIkzsbXq5CBLiAgFF4rnp6UVHZqZj90wkb-_ExKDgqQrq46-qD4AzBMcUMXSluzaMMZEM7YEhynOaCUby_V2P-QAcp_QOIWFC4iMwwIQSiSkfgsP5dPL0jE_AgddVcqfbOgIvt9P55D6bPd49TG5mmSGUt5nwVhjHobF5wZwoKOSF1ppCbLmz1ufGGck5dBRRiRwj2CKPsSCmgFgLSkbgepO76IraWeOaNupKLWJZ67hSQZfq76Qp39RrWCrCmEQy7wMutgExfHQutaouk3FVpRsXuqQQoYJK3v_fo5cb1MSQUnR-twZBtRan1uLUt7gePv992A79MdUD-QYoGx9irT9DrKxq9aoK0UfdmDIp8k_wFx2oeqY</recordid><startdate>20130501</startdate><enddate>20130501</enddate><creator>Oz-Levi, Danit</creator><creator>Gelman, Amir</creator><creator>Elazar, Zvulun</creator><creator>Lancet, Doron</creator><general>Taylor & Francis</general><general>Landes Bioscience</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20130501</creationdate><title>TECPR2</title><author>Oz-Levi, Danit ; Gelman, Amir ; Elazar, Zvulun ; Lancet, Doron</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c347t-8fd8ce70cd5b6e8b407baaa402d7eddf5cec9770e41491e632d1f2283cb02a843</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Autophagic Punctum</topic><topic>Autophagy</topic><topic>endosomal trafficking</topic><topic>exome sequencing</topic><topic>HeLa Cells</topic><topic>hereditary spastic paraparesis</topic><topic>Humans</topic><topic>MAP1LC3</topic><topic>Mitochondria - metabolism</topic><topic>Mutation - genetics</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Nerve Tissue Proteins - metabolism</topic><topic>Neurodegenerative Diseases - metabolism</topic><topic>Neurodegenerative Diseases - pathology</topic><topic>Paraparesis, Spastic - genetics</topic><topic>Paraparesis, Spastic - pathology</topic><topic>Proteolysis</topic><topic>Signal Transduction</topic><topic>skin fibroblasts</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Oz-Levi, Danit</creatorcontrib><creatorcontrib>Gelman, Amir</creatorcontrib><creatorcontrib>Elazar, Zvulun</creatorcontrib><creatorcontrib>Lancet, Doron</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Autophagy</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Oz-Levi, Danit</au><au>Gelman, Amir</au><au>Elazar, Zvulun</au><au>Lancet, Doron</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>TECPR2: A new autophagy link for neurodegeneration</atitle><jtitle>Autophagy</jtitle><addtitle>Autophagy</addtitle><date>2013-05-01</date><risdate>2013</risdate><volume>9</volume><issue>5</issue><spage>801</spage><epage>802</epage><pages>801-802</pages><issn>1554-8627</issn><eissn>1554-8635</eissn><abstract>Autophagy dysfunction has been implicated in a group of progressive neurodegenerative diseases, and has been reported to play a major role in the pathogenesis of these disorders. We have recently reported a recessive mutation in TECPR2, an autophagy-implicated WD repeat-containing protein, in five individuals with a novel form of monogenic hereditary spastic paraparesis (HSP). We found that diseased skin fibroblasts had a decreased accumulation of the autophagy-initiation protein MAP1LC3B/LC3B, and an attenuated delivery of both LC3B and the cargo-recruiting protein SQSTM1/p62 to the lysosome where they are subject to degradation. The discovered TECPR2 mutation reveals for the first time a role for aberrant autophagy in a major class of Mendelian neurodegenerative diseases, and suggests mechanisms by which impaired autophagy may impinge on a broader scope of neurodegeneration.</abstract><cop>United States</cop><pub>Taylor & Francis</pub><pmid>23439247</pmid><doi>10.4161/auto.23961</doi><tpages>2</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Autophagic Punctum Autophagy endosomal trafficking exome sequencing HeLa Cells hereditary spastic paraparesis Humans MAP1LC3 Mitochondria - metabolism Mutation - genetics Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Neurodegenerative Diseases - metabolism Neurodegenerative Diseases - pathology Paraparesis, Spastic - genetics Paraparesis, Spastic - pathology Proteolysis Signal Transduction skin fibroblasts |
| title | TECPR2: A new autophagy link for neurodegeneration |
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