Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease
Spinal muscular atrophy (SMA) is a neurodegenerative disease in humans and the most common genetic cause of infant mortality. The disease results in motor neuron loss and skeletal muscle atrophy. Despite a range of disease phenotypes, SMA is caused by mutations in a single gene, the Survival of Moto...
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| Veröffentlicht in: | Neuron (Cambridge, Mass.) Mass.), 2005-12, Vol.48 (6), p.885-895 |
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| creator | Monani, Umrao R. |
| description | Spinal muscular atrophy (SMA) is a neurodegenerative disease in humans and the most common genetic cause of infant mortality. The disease results in motor neuron loss and skeletal muscle atrophy. Despite a range of disease phenotypes, SMA is caused by mutations in a single gene, the
Survival of
Motor
Neuron 1
(SMN1) gene. Recent advances have shed light on functions of the protein product of this gene and the pathophysiology of the disease, yet, fundamental questions remain. This review attempts to highlight some of the recent advances made in the understanding of the disease and how loss of the ubiquitously expressed survival of motor neurons (SMN) protein results in the SMA phenotype. Answers to some of the questions raised may ultimately result in a viable treatment for SMA. |
| doi_str_mv | 10.1016/j.neuron.2005.12.001 |
| format | Article |
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Survival of
Motor
Neuron 1
(SMN1) gene. Recent advances have shed light on functions of the protein product of this gene and the pathophysiology of the disease, yet, fundamental questions remain. This review attempts to highlight some of the recent advances made in the understanding of the disease and how loss of the ubiquitously expressed survival of motor neurons (SMN) protein results in the SMA phenotype. Answers to some of the questions raised may ultimately result in a viable treatment for SMA.</description><identifier>ISSN: 0896-6273</identifier><identifier>EISSN: 1097-4199</identifier><identifier>DOI: 10.1016/j.neuron.2005.12.001</identifier><identifier>PMID: 16364894</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Animals ; Cyclic AMP Response Element-Binding Protein - deficiency ; Cyclic AMP Response Element-Binding Protein - genetics ; Defects ; Disease ; Gene expression ; Genotype & phenotype ; Humans ; Inheritance Patterns - genetics ; Models, Animal ; Mortality ; Motor Neurons - metabolism ; Motor Neurons - pathology ; Muscular Atrophy, Spinal - genetics ; Muscular Atrophy, Spinal - metabolism ; Muscular Atrophy, Spinal - physiopathology ; Muscular dystrophy ; Muscular system ; Mutation ; Mutation - genetics ; Nerve Degeneration - genetics ; Nerve Degeneration - metabolism ; Nerve Tissue Proteins - deficiency ; Nerve Tissue Proteins - genetics ; Neurons ; Proteins ; RNA, Small Nuclear - genetics ; RNA, Small Nuclear - metabolism ; RNA-Binding Proteins - genetics ; Rodents ; Scoliosis ; SMN Complex Proteins ; Spinal Cord - metabolism ; Spinal Cord - pathology ; Spinal Cord - physiopathology ; Studies ; Survival of Motor Neuron 1 Protein</subject><ispartof>Neuron (Cambridge, Mass.), 2005-12, Vol.48 (6), p.885-895</ispartof><rights>2005 Elsevier Inc.</rights><rights>Copyright Elsevier Limited Dec 22, 2005</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c465t-9e41b04ec0c4e82f727923f3dfadee94d8b213f3347949fcbade8c7a980474c33</citedby><cites>FETCH-LOGICAL-c465t-9e41b04ec0c4e82f727923f3dfadee94d8b213f3347949fcbade8c7a980474c33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0896627305010111$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16364894$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Monani, Umrao R.</creatorcontrib><title>Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease</title><title>Neuron (Cambridge, Mass.)</title><addtitle>Neuron</addtitle><description>Spinal muscular atrophy (SMA) is a neurodegenerative disease in humans and the most common genetic cause of infant mortality. The disease results in motor neuron loss and skeletal muscle atrophy. Despite a range of disease phenotypes, SMA is caused by mutations in a single gene, the
Survival of
Motor
Neuron 1
(SMN1) gene. Recent advances have shed light on functions of the protein product of this gene and the pathophysiology of the disease, yet, fundamental questions remain. This review attempts to highlight some of the recent advances made in the understanding of the disease and how loss of the ubiquitously expressed survival of motor neurons (SMN) protein results in the SMA phenotype. Answers to some of the questions raised may ultimately result in a viable treatment for SMA.</description><subject>Animals</subject><subject>Cyclic AMP Response Element-Binding Protein - deficiency</subject><subject>Cyclic AMP Response Element-Binding Protein - genetics</subject><subject>Defects</subject><subject>Disease</subject><subject>Gene expression</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Inheritance Patterns - genetics</subject><subject>Models, Animal</subject><subject>Mortality</subject><subject>Motor Neurons - metabolism</subject><subject>Motor Neurons - pathology</subject><subject>Muscular Atrophy, Spinal - genetics</subject><subject>Muscular Atrophy, Spinal - metabolism</subject><subject>Muscular Atrophy, Spinal - physiopathology</subject><subject>Muscular dystrophy</subject><subject>Muscular system</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Nerve Degeneration - genetics</subject><subject>Nerve Degeneration - metabolism</subject><subject>Nerve Tissue Proteins - deficiency</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Neurons</subject><subject>Proteins</subject><subject>RNA, Small Nuclear - genetics</subject><subject>RNA, Small Nuclear - metabolism</subject><subject>RNA-Binding Proteins - genetics</subject><subject>Rodents</subject><subject>Scoliosis</subject><subject>SMN Complex Proteins</subject><subject>Spinal Cord - metabolism</subject><subject>Spinal Cord - pathology</subject><subject>Spinal Cord - physiopathology</subject><subject>Studies</subject><subject>Survival of Motor Neuron 1 Protein</subject><issn>0896-6273</issn><issn>1097-4199</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkW9rFDEQh4NY7Fn9BiIBwXe7ZrLZbKIgHP2jhVaF2reGbHYWc-xttsmucN--ae9A8IV9FWZ4fpNhHkLeACuBgfywKUdcYhhLzlhdAi8Zg2dkBUw3hQCtn5MVU1oWkjfVMXmZ0iYDotbwghyDrKRQWqzIr5vJj3ag10tyy2AjXc8xTL93H-manmHvncfR7agfqaW3rb9b_ByWRH_EMKMfP-XudZhDpN8edyluJnQ-p-iZT2gTviJHvR0Svj68J-T24vzn6dfi6vuXy9P1VeGErOdCo4CWCXTMCVS8b3ijedVXXW87RC061XLIdSUaLXTv2txWrrFaMdEIV1Un5P1-7hTD3YJpNlufHA6DHTHva6TSAHnEkyBnjRLAZQbf_QNuwhLzqZKBmlWyrmvFMyX2lIshpYi9maLf2rgzwMyDJrMxe03mQZMBbrKFHHt7GL60W-z-hg5eMvB5D2A-2h-P0aRHE9j5iG42XfD__-EeW9ukrQ</recordid><startdate>20051222</startdate><enddate>20051222</enddate><creator>Monani, Umrao R.</creator><general>Elsevier Inc</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</scope><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>7QP</scope><scope>7QR</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20051222</creationdate><title>Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease</title><author>Monani, Umrao R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c465t-9e41b04ec0c4e82f727923f3dfadee94d8b213f3347949fcbade8c7a980474c33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Animals</topic><topic>Cyclic AMP Response Element-Binding Protein - deficiency</topic><topic>Cyclic AMP Response Element-Binding Protein - genetics</topic><topic>Defects</topic><topic>Disease</topic><topic>Gene expression</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Inheritance Patterns - genetics</topic><topic>Models, Animal</topic><topic>Mortality</topic><topic>Motor Neurons - metabolism</topic><topic>Motor Neurons - pathology</topic><topic>Muscular Atrophy, Spinal - genetics</topic><topic>Muscular Atrophy, Spinal - metabolism</topic><topic>Muscular Atrophy, Spinal - physiopathology</topic><topic>Muscular dystrophy</topic><topic>Muscular system</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Nerve Degeneration - genetics</topic><topic>Nerve Degeneration - metabolism</topic><topic>Nerve Tissue Proteins - deficiency</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Neurons</topic><topic>Proteins</topic><topic>RNA, Small Nuclear - genetics</topic><topic>RNA, Small Nuclear - metabolism</topic><topic>RNA-Binding Proteins - genetics</topic><topic>Rodents</topic><topic>Scoliosis</topic><topic>SMN Complex Proteins</topic><topic>Spinal Cord - metabolism</topic><topic>Spinal Cord - pathology</topic><topic>Spinal Cord - physiopathology</topic><topic>Studies</topic><topic>Survival of Motor Neuron 1 Protein</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Monani, Umrao R.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Neuron (Cambridge, Mass.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Monani, Umrao R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease</atitle><jtitle>Neuron (Cambridge, Mass.)</jtitle><addtitle>Neuron</addtitle><date>2005-12-22</date><risdate>2005</risdate><volume>48</volume><issue>6</issue><spage>885</spage><epage>895</epage><pages>885-895</pages><issn>0896-6273</issn><eissn>1097-4199</eissn><abstract>Spinal muscular atrophy (SMA) is a neurodegenerative disease in humans and the most common genetic cause of infant mortality. The disease results in motor neuron loss and skeletal muscle atrophy. Despite a range of disease phenotypes, SMA is caused by mutations in a single gene, the
Survival of
Motor
Neuron 1
(SMN1) gene. Recent advances have shed light on functions of the protein product of this gene and the pathophysiology of the disease, yet, fundamental questions remain. This review attempts to highlight some of the recent advances made in the understanding of the disease and how loss of the ubiquitously expressed survival of motor neurons (SMN) protein results in the SMA phenotype. Answers to some of the questions raised may ultimately result in a viable treatment for SMA.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>16364894</pmid><doi>10.1016/j.neuron.2005.12.001</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Cell Press Free Archives; Elsevier ScienceDirect Journals; EZB-FREE-00999 freely available EZB journals |
| subjects | Animals Cyclic AMP Response Element-Binding Protein - deficiency Cyclic AMP Response Element-Binding Protein - genetics Defects Disease Gene expression Genotype & phenotype Humans Inheritance Patterns - genetics Models, Animal Mortality Motor Neurons - metabolism Motor Neurons - pathology Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - metabolism Muscular Atrophy, Spinal - physiopathology Muscular dystrophy Muscular system Mutation Mutation - genetics Nerve Degeneration - genetics Nerve Degeneration - metabolism Nerve Tissue Proteins - deficiency Nerve Tissue Proteins - genetics Neurons Proteins RNA, Small Nuclear - genetics RNA, Small Nuclear - metabolism RNA-Binding Proteins - genetics Rodents Scoliosis SMN Complex Proteins Spinal Cord - metabolism Spinal Cord - pathology Spinal Cord - physiopathology Studies Survival of Motor Neuron 1 Protein |
| title | Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease |
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