Mutation in glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias
Brugada syndrome is a rare, autosomal-dominant, male-predominant form of idiopathic ventricular fibrillation characterized by a right bundle-branch block and ST elevation in the right precordial leads of the surface ECG. Mutations in the cardiac Na+ channel SCN5A on chromosome 3p21 cause approximate...
Gespeichert in:
| Veröffentlicht in: | Circulation (New York, N.Y.) N.Y.), 2007-11, Vol.116 (20), p.2260-2268 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 2268 |
|---|---|
| container_issue | 20 |
| container_start_page | 2260 |
| container_title | Circulation (New York, N.Y.) |
| container_volume | 116 |
| creator | LONDON, Barry MICHALEC, Michael BATY, Catherine J LAGANA, Stephen ALEONG, Ryan GUTMANN, Rebecca ACKERMAN, Michael J MCNAMARA, Dennis M WEISS, Raul DUDLEY, Samuel C MEHDI, Haider XIAODONG ZHU KERCHNER, Laurie SANYAL, Shamarendra VISWANATHAN, Prakash C PFAHNL, Arnold E SHANG, Lijuan L MADHUSUDANAN, Mohan |
| description | Brugada syndrome is a rare, autosomal-dominant, male-predominant form of idiopathic ventricular fibrillation characterized by a right bundle-branch block and ST elevation in the right precordial leads of the surface ECG. Mutations in the cardiac Na+ channel SCN5A on chromosome 3p21 cause approximately 20% of the cases of Brugada syndrome; most mutations decrease inward Na+ current, some by preventing trafficking of the channels to the surface membrane. We previously used positional cloning to identify a new locus on chromosome 3p24 in a large family with Brugada syndrome and excluded SCN5A as a candidate gene.
We used direct sequencing to identify a mutation (A280V) in a conserved amino acid of the glycerol-3-phosphate dehydrogenase 1-like (GPD1-L) gene. The mutation was present in all affected individuals and absent in >500 control subjects. GPD1-L RNA and protein are abundant in the heart. Compared with wild-type GPD1-L, coexpression of A280V GPD1-L with SCN5A in HEK cells reduced inward Na+ currents by approximately 50% (P |
| doi_str_mv | 10.1161/circulationaha.107.703330 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3150966</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>68497671</sourcerecordid><originalsourceid>FETCH-LOGICAL-c560t-c58b71e7fe26da4ba026a2e05681898a4752e32a67e248fb5b16537ce2a9506b3</originalsourceid><addsrcrecordid>eNpVkU-P0zAQxS0EYsvCV0DmAAKhFP-J7fiCVBXYrVR2Edo9WxNn2hjSpNgJUq98cry0YuFia-b95s1Ij5AXnM051_ydD9FPHYxh6KGFOWdmbpiUkj0gM65EWZRK2odkxhizhZFCnJEnKX3LpZZGPSZn3FhtrDEz8uvzNP4xoqGn2-7gMQ5dIYt9O6R9CyPSBttDE4ct9pCQ8qIL35HmCunriy8feLF-kxEfMauJeohNAE-v4C31U4zYjxT6JvenOzn0LcYwYkMhxvYwtrsA6Sl5tIEu4bPTf05uP328WV4W6-uL1XKxLrzSbMxvVRuOZoNCN1DWwIQGgUzpile2gtIogVKANijKalOrmmsljUcBVjFdy3Py_ui7n-odNj7fFqFz-xh2EA9ugOD-V_rQuu3w00mumNU6G7w6GcThx4RpdLuQPHYd9DhMyemqtEYbnkF7BH0cUoq4-buEM3eXoFuuvi5v14ub1fXV4nKR28YdE8yzz_-98n7yFFkGXp4ASB66TYTeh3TP2VJalY1-A3uCqYw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>68497671</pqid></control><display><type>article</type><title>Mutation in glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias</title><source>Journals@Ovid Ovid Autoload</source><source>MEDLINE</source><source>American Heart Association Journals</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><creator>LONDON, Barry ; MICHALEC, Michael ; BATY, Catherine J ; LAGANA, Stephen ; ALEONG, Ryan ; GUTMANN, Rebecca ; ACKERMAN, Michael J ; MCNAMARA, Dennis M ; WEISS, Raul ; DUDLEY, Samuel C ; MEHDI, Haider ; XIAODONG ZHU ; KERCHNER, Laurie ; SANYAL, Shamarendra ; VISWANATHAN, Prakash C ; PFAHNL, Arnold E ; SHANG, Lijuan L ; MADHUSUDANAN, Mohan</creator><creatorcontrib>LONDON, Barry ; MICHALEC, Michael ; BATY, Catherine J ; LAGANA, Stephen ; ALEONG, Ryan ; GUTMANN, Rebecca ; ACKERMAN, Michael J ; MCNAMARA, Dennis M ; WEISS, Raul ; DUDLEY, Samuel C ; MEHDI, Haider ; XIAODONG ZHU ; KERCHNER, Laurie ; SANYAL, Shamarendra ; VISWANATHAN, Prakash C ; PFAHNL, Arnold E ; SHANG, Lijuan L ; MADHUSUDANAN, Mohan</creatorcontrib><description>Brugada syndrome is a rare, autosomal-dominant, male-predominant form of idiopathic ventricular fibrillation characterized by a right bundle-branch block and ST elevation in the right precordial leads of the surface ECG. Mutations in the cardiac Na+ channel SCN5A on chromosome 3p21 cause approximately 20% of the cases of Brugada syndrome; most mutations decrease inward Na+ current, some by preventing trafficking of the channels to the surface membrane. We previously used positional cloning to identify a new locus on chromosome 3p24 in a large family with Brugada syndrome and excluded SCN5A as a candidate gene.
We used direct sequencing to identify a mutation (A280V) in a conserved amino acid of the glycerol-3-phosphate dehydrogenase 1-like (GPD1-L) gene. The mutation was present in all affected individuals and absent in >500 control subjects. GPD1-L RNA and protein are abundant in the heart. Compared with wild-type GPD1-L, coexpression of A280V GPD1-L with SCN5A in HEK cells reduced inward Na+ currents by approximately 50% (P<0.005). Wild-type GPD1-L localized near the cell surface to a greater extent than A280V GPD1-L. Coexpression of A280V GPD1-L with SCN5A reduced SCN5A cell surface expression by 31+/-5% (P=0.01).
GPD1-L is a novel gene that may affect trafficking of the cardiac Na+ channel to the cell surface. A GPD1-L mutation decreases SCN5A surface membrane expression, reduces inward Na+ current, and causes Brugada syndrome.</description><identifier>ISSN: 0009-7322</identifier><identifier>EISSN: 1524-4539</identifier><identifier>DOI: 10.1161/circulationaha.107.703330</identifier><identifier>PMID: 17967977</identifier><identifier>CODEN: CIRCAZ</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Animals ; Antihypertensive agents ; Biological and medical sciences ; Blood and lymphatic vessels ; Brugada Syndrome - genetics ; Brugada Syndrome - physiopathology ; Cardiology. Vascular system ; Cardiovascular system ; Chlorocebus aethiops ; Chromosomes, Human, Pair 3 ; COS Cells ; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous ; Family Health ; Female ; Glycerolphosphate Dehydrogenase - genetics ; Glycerolphosphate Dehydrogenase - metabolism ; Heart ; Heart - physiology ; Heart failure, cardiogenic pulmonary edema, cardiac enlargement ; Humans ; Italy ; Kidney - cytology ; Male ; Medical sciences ; Muscle Proteins - genetics ; Muscle Proteins - metabolism ; NAV1.5 Voltage-Gated Sodium Channel ; Pedigree ; Pharmacology. Drug treatments ; Point Mutation ; Sodium - metabolism ; Sodium Channels - genetics ; Sodium Channels - metabolism ; Sugar Alcohol Dehydrogenases - genetics ; Sugar Alcohol Dehydrogenases - metabolism ; Ventricular Fibrillation - genetics ; Ventricular Fibrillation - physiopathology</subject><ispartof>Circulation (New York, N.Y.), 2007-11, Vol.116 (20), p.2260-2268</ispartof><rights>2008 INIST-CNRS</rights><rights>2007 American Heart Association, Inc. 2007</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c560t-c58b71e7fe26da4ba026a2e05681898a4752e32a67e248fb5b16537ce2a9506b3</citedby><cites>FETCH-LOGICAL-c560t-c58b71e7fe26da4ba026a2e05681898a4752e32a67e248fb5b16537ce2a9506b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,3674,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19439530$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17967977$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>LONDON, Barry</creatorcontrib><creatorcontrib>MICHALEC, Michael</creatorcontrib><creatorcontrib>BATY, Catherine J</creatorcontrib><creatorcontrib>LAGANA, Stephen</creatorcontrib><creatorcontrib>ALEONG, Ryan</creatorcontrib><creatorcontrib>GUTMANN, Rebecca</creatorcontrib><creatorcontrib>ACKERMAN, Michael J</creatorcontrib><creatorcontrib>MCNAMARA, Dennis M</creatorcontrib><creatorcontrib>WEISS, Raul</creatorcontrib><creatorcontrib>DUDLEY, Samuel C</creatorcontrib><creatorcontrib>MEHDI, Haider</creatorcontrib><creatorcontrib>XIAODONG ZHU</creatorcontrib><creatorcontrib>KERCHNER, Laurie</creatorcontrib><creatorcontrib>SANYAL, Shamarendra</creatorcontrib><creatorcontrib>VISWANATHAN, Prakash C</creatorcontrib><creatorcontrib>PFAHNL, Arnold E</creatorcontrib><creatorcontrib>SHANG, Lijuan L</creatorcontrib><creatorcontrib>MADHUSUDANAN, Mohan</creatorcontrib><title>Mutation in glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias</title><title>Circulation (New York, N.Y.)</title><addtitle>Circulation</addtitle><description>Brugada syndrome is a rare, autosomal-dominant, male-predominant form of idiopathic ventricular fibrillation characterized by a right bundle-branch block and ST elevation in the right precordial leads of the surface ECG. Mutations in the cardiac Na+ channel SCN5A on chromosome 3p21 cause approximately 20% of the cases of Brugada syndrome; most mutations decrease inward Na+ current, some by preventing trafficking of the channels to the surface membrane. We previously used positional cloning to identify a new locus on chromosome 3p24 in a large family with Brugada syndrome and excluded SCN5A as a candidate gene.
We used direct sequencing to identify a mutation (A280V) in a conserved amino acid of the glycerol-3-phosphate dehydrogenase 1-like (GPD1-L) gene. The mutation was present in all affected individuals and absent in >500 control subjects. GPD1-L RNA and protein are abundant in the heart. Compared with wild-type GPD1-L, coexpression of A280V GPD1-L with SCN5A in HEK cells reduced inward Na+ currents by approximately 50% (P<0.005). Wild-type GPD1-L localized near the cell surface to a greater extent than A280V GPD1-L. Coexpression of A280V GPD1-L with SCN5A reduced SCN5A cell surface expression by 31+/-5% (P=0.01).
GPD1-L is a novel gene that may affect trafficking of the cardiac Na+ channel to the cell surface. A GPD1-L mutation decreases SCN5A surface membrane expression, reduces inward Na+ current, and causes Brugada syndrome.</description><subject>Animals</subject><subject>Antihypertensive agents</subject><subject>Biological and medical sciences</subject><subject>Blood and lymphatic vessels</subject><subject>Brugada Syndrome - genetics</subject><subject>Brugada Syndrome - physiopathology</subject><subject>Cardiology. Vascular system</subject><subject>Cardiovascular system</subject><subject>Chlorocebus aethiops</subject><subject>Chromosomes, Human, Pair 3</subject><subject>COS Cells</subject><subject>Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous</subject><subject>Family Health</subject><subject>Female</subject><subject>Glycerolphosphate Dehydrogenase - genetics</subject><subject>Glycerolphosphate Dehydrogenase - metabolism</subject><subject>Heart</subject><subject>Heart - physiology</subject><subject>Heart failure, cardiogenic pulmonary edema, cardiac enlargement</subject><subject>Humans</subject><subject>Italy</subject><subject>Kidney - cytology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Muscle Proteins - genetics</subject><subject>Muscle Proteins - metabolism</subject><subject>NAV1.5 Voltage-Gated Sodium Channel</subject><subject>Pedigree</subject><subject>Pharmacology. Drug treatments</subject><subject>Point Mutation</subject><subject>Sodium - metabolism</subject><subject>Sodium Channels - genetics</subject><subject>Sodium Channels - metabolism</subject><subject>Sugar Alcohol Dehydrogenases - genetics</subject><subject>Sugar Alcohol Dehydrogenases - metabolism</subject><subject>Ventricular Fibrillation - genetics</subject><subject>Ventricular Fibrillation - physiopathology</subject><issn>0009-7322</issn><issn>1524-4539</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkU-P0zAQxS0EYsvCV0DmAAKhFP-J7fiCVBXYrVR2Edo9WxNn2hjSpNgJUq98cry0YuFia-b95s1Ij5AXnM051_ydD9FPHYxh6KGFOWdmbpiUkj0gM65EWZRK2odkxhizhZFCnJEnKX3LpZZGPSZn3FhtrDEz8uvzNP4xoqGn2-7gMQ5dIYt9O6R9CyPSBttDE4ct9pCQ8qIL35HmCunriy8feLF-kxEfMauJeohNAE-v4C31U4zYjxT6JvenOzn0LcYwYkMhxvYwtrsA6Sl5tIEu4bPTf05uP328WV4W6-uL1XKxLrzSbMxvVRuOZoNCN1DWwIQGgUzpile2gtIogVKANijKalOrmmsljUcBVjFdy3Py_ui7n-odNj7fFqFz-xh2EA9ugOD-V_rQuu3w00mumNU6G7w6GcThx4RpdLuQPHYd9DhMyemqtEYbnkF7BH0cUoq4-buEM3eXoFuuvi5v14ub1fXV4nKR28YdE8yzz_-98n7yFFkGXp4ASB66TYTeh3TP2VJalY1-A3uCqYw</recordid><startdate>20071113</startdate><enddate>20071113</enddate><creator>LONDON, Barry</creator><creator>MICHALEC, Michael</creator><creator>BATY, Catherine J</creator><creator>LAGANA, Stephen</creator><creator>ALEONG, Ryan</creator><creator>GUTMANN, Rebecca</creator><creator>ACKERMAN, Michael J</creator><creator>MCNAMARA, Dennis M</creator><creator>WEISS, Raul</creator><creator>DUDLEY, Samuel C</creator><creator>MEHDI, Haider</creator><creator>XIAODONG ZHU</creator><creator>KERCHNER, Laurie</creator><creator>SANYAL, Shamarendra</creator><creator>VISWANATHAN, Prakash C</creator><creator>PFAHNL, Arnold E</creator><creator>SHANG, Lijuan L</creator><creator>MADHUSUDANAN, Mohan</creator><general>Lippincott Williams & Wilkins</general><scope>IQODW</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>7X8</scope><scope>5PM</scope></search><sort><creationdate>20071113</creationdate><title>Mutation in glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias</title><author>LONDON, Barry ; MICHALEC, Michael ; BATY, Catherine J ; LAGANA, Stephen ; ALEONG, Ryan ; GUTMANN, Rebecca ; ACKERMAN, Michael J ; MCNAMARA, Dennis M ; WEISS, Raul ; DUDLEY, Samuel C ; MEHDI, Haider ; XIAODONG ZHU ; KERCHNER, Laurie ; SANYAL, Shamarendra ; VISWANATHAN, Prakash C ; PFAHNL, Arnold E ; SHANG, Lijuan L ; MADHUSUDANAN, Mohan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c560t-c58b71e7fe26da4ba026a2e05681898a4752e32a67e248fb5b16537ce2a9506b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Animals</topic><topic>Antihypertensive agents</topic><topic>Biological and medical sciences</topic><topic>Blood and lymphatic vessels</topic><topic>Brugada Syndrome - genetics</topic><topic>Brugada Syndrome - physiopathology</topic><topic>Cardiology. Vascular system</topic><topic>Cardiovascular system</topic><topic>Chlorocebus aethiops</topic><topic>Chromosomes, Human, Pair 3</topic><topic>COS Cells</topic><topic>Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous</topic><topic>Family Health</topic><topic>Female</topic><topic>Glycerolphosphate Dehydrogenase - genetics</topic><topic>Glycerolphosphate Dehydrogenase - metabolism</topic><topic>Heart</topic><topic>Heart - physiology</topic><topic>Heart failure, cardiogenic pulmonary edema, cardiac enlargement</topic><topic>Humans</topic><topic>Italy</topic><topic>Kidney - cytology</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Muscle Proteins - genetics</topic><topic>Muscle Proteins - metabolism</topic><topic>NAV1.5 Voltage-Gated Sodium Channel</topic><topic>Pedigree</topic><topic>Pharmacology. Drug treatments</topic><topic>Point Mutation</topic><topic>Sodium - metabolism</topic><topic>Sodium Channels - genetics</topic><topic>Sodium Channels - metabolism</topic><topic>Sugar Alcohol Dehydrogenases - genetics</topic><topic>Sugar Alcohol Dehydrogenases - metabolism</topic><topic>Ventricular Fibrillation - genetics</topic><topic>Ventricular Fibrillation - physiopathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>LONDON, Barry</creatorcontrib><creatorcontrib>MICHALEC, Michael</creatorcontrib><creatorcontrib>BATY, Catherine J</creatorcontrib><creatorcontrib>LAGANA, Stephen</creatorcontrib><creatorcontrib>ALEONG, Ryan</creatorcontrib><creatorcontrib>GUTMANN, Rebecca</creatorcontrib><creatorcontrib>ACKERMAN, Michael J</creatorcontrib><creatorcontrib>MCNAMARA, Dennis M</creatorcontrib><creatorcontrib>WEISS, Raul</creatorcontrib><creatorcontrib>DUDLEY, Samuel C</creatorcontrib><creatorcontrib>MEHDI, Haider</creatorcontrib><creatorcontrib>XIAODONG ZHU</creatorcontrib><creatorcontrib>KERCHNER, Laurie</creatorcontrib><creatorcontrib>SANYAL, Shamarendra</creatorcontrib><creatorcontrib>VISWANATHAN, Prakash C</creatorcontrib><creatorcontrib>PFAHNL, Arnold E</creatorcontrib><creatorcontrib>SHANG, Lijuan L</creatorcontrib><creatorcontrib>MADHUSUDANAN, Mohan</creatorcontrib><collection>Pascal-Francis</collection><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>Circulation (New York, N.Y.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>LONDON, Barry</au><au>MICHALEC, Michael</au><au>BATY, Catherine J</au><au>LAGANA, Stephen</au><au>ALEONG, Ryan</au><au>GUTMANN, Rebecca</au><au>ACKERMAN, Michael J</au><au>MCNAMARA, Dennis M</au><au>WEISS, Raul</au><au>DUDLEY, Samuel C</au><au>MEHDI, Haider</au><au>XIAODONG ZHU</au><au>KERCHNER, Laurie</au><au>SANYAL, Shamarendra</au><au>VISWANATHAN, Prakash C</au><au>PFAHNL, Arnold E</au><au>SHANG, Lijuan L</au><au>MADHUSUDANAN, Mohan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation in glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias</atitle><jtitle>Circulation (New York, N.Y.)</jtitle><addtitle>Circulation</addtitle><date>2007-11-13</date><risdate>2007</risdate><volume>116</volume><issue>20</issue><spage>2260</spage><epage>2268</epage><pages>2260-2268</pages><issn>0009-7322</issn><eissn>1524-4539</eissn><coden>CIRCAZ</coden><abstract>Brugada syndrome is a rare, autosomal-dominant, male-predominant form of idiopathic ventricular fibrillation characterized by a right bundle-branch block and ST elevation in the right precordial leads of the surface ECG. Mutations in the cardiac Na+ channel SCN5A on chromosome 3p21 cause approximately 20% of the cases of Brugada syndrome; most mutations decrease inward Na+ current, some by preventing trafficking of the channels to the surface membrane. We previously used positional cloning to identify a new locus on chromosome 3p24 in a large family with Brugada syndrome and excluded SCN5A as a candidate gene.
We used direct sequencing to identify a mutation (A280V) in a conserved amino acid of the glycerol-3-phosphate dehydrogenase 1-like (GPD1-L) gene. The mutation was present in all affected individuals and absent in >500 control subjects. GPD1-L RNA and protein are abundant in the heart. Compared with wild-type GPD1-L, coexpression of A280V GPD1-L with SCN5A in HEK cells reduced inward Na+ currents by approximately 50% (P<0.005). Wild-type GPD1-L localized near the cell surface to a greater extent than A280V GPD1-L. Coexpression of A280V GPD1-L with SCN5A reduced SCN5A cell surface expression by 31+/-5% (P=0.01).
GPD1-L is a novel gene that may affect trafficking of the cardiac Na+ channel to the cell surface. A GPD1-L mutation decreases SCN5A surface membrane expression, reduces inward Na+ current, and causes Brugada syndrome.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>17967977</pmid><doi>10.1161/circulationaha.107.703330</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0009-7322 |
| ispartof | Circulation (New York, N.Y.), 2007-11, Vol.116 (20), p.2260-2268 |
| issn | 0009-7322 1524-4539 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3150966 |
| source | Journals@Ovid Ovid Autoload; MEDLINE; American Heart Association Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Animals Antihypertensive agents Biological and medical sciences Blood and lymphatic vessels Brugada Syndrome - genetics Brugada Syndrome - physiopathology Cardiology. Vascular system Cardiovascular system Chlorocebus aethiops Chromosomes, Human, Pair 3 COS Cells Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous Family Health Female Glycerolphosphate Dehydrogenase - genetics Glycerolphosphate Dehydrogenase - metabolism Heart Heart - physiology Heart failure, cardiogenic pulmonary edema, cardiac enlargement Humans Italy Kidney - cytology Male Medical sciences Muscle Proteins - genetics Muscle Proteins - metabolism NAV1.5 Voltage-Gated Sodium Channel Pedigree Pharmacology. Drug treatments Point Mutation Sodium - metabolism Sodium Channels - genetics Sodium Channels - metabolism Sugar Alcohol Dehydrogenases - genetics Sugar Alcohol Dehydrogenases - metabolism Ventricular Fibrillation - genetics Ventricular Fibrillation - physiopathology |
| title | Mutation in glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-12T14%3A28%3A32IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutation%20in%20glycerol-3-phosphate%20dehydrogenase%201-like%20gene%20(GPD1-L)%20decreases%20cardiac%20Na+%20current%20and%20causes%20inherited%20arrhythmias&rft.jtitle=Circulation%20(New%20York,%20N.Y.)&rft.au=LONDON,%20Barry&rft.date=2007-11-13&rft.volume=116&rft.issue=20&rft.spage=2260&rft.epage=2268&rft.pages=2260-2268&rft.issn=0009-7322&rft.eissn=1524-4539&rft.coden=CIRCAZ&rft_id=info:doi/10.1161/circulationaha.107.703330&rft_dat=%3Cproquest_pubme%3E68497671%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=68497671&rft_id=info:pmid/17967977&rfr_iscdi=true |