{"id":"https://openalex.org/W82539290","doi":null,"title":"Study of Wolfram Syndrome in neuronal cell models","display_name":"Study of Wolfram Syndrome in neuronal cell models","publication_year":2013,"publication_date":"2013-07-01","ids":{"openalex":"https://openalex.org/W82539290","mag":"82539290"},"language":"en","primary_location":{"id":"pmh:oai:etheses.bham.ac.uk:4235","doi":null,"is_oa":true,"landing_page_url":"http://etheses.bham.ac.uk/4235/1/Gharanei13PhD.pdf","pdf_url":"http://etheses.bham.ac.uk/4235/1/Gharanei13PhD.pdf","source":{"id":"https://openalex.org/S4306402357","display_name":"University of Birmingham Institutional Research Archive (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://etheses.bham.ac.uk/4235/1/Gharanei13PhD.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5078124463","display_name":"Seley Gharanei","orcid":"https://orcid.org/0000-0002-5935-8950","observed_orcids":["https://orcid.org/0000-0002-5935-8950"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Seley Gharanei","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-5935-8950","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5078124463"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11150","display_name":"Endoplasmic Reticulum Stress and Disease","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11150","display_name":"Endoplasmic Reticulum Stress and Disease","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10934","display_name":"Heat shock proteins research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10587","display_name":"Autophagy in Disease and Therapy","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/wolfram-syndrome","display_name":"Wolfram syndrome","score":0.9940000176429749},{"id":"https://openalex.org/keywords/wfs1","display_name":"WFS1","score":0.9200000166893005},{"id":"https://openalex.org/keywords/endoplasmic-reticulum-stress","display_name":"endoplasmic reticulum stress","score":0.9200000166893005},{"id":"https://openalex.org/keywords/apoptosis","display_name":"apoptosis","score":0.6079999804496765},{"id":"https://openalex.org/keywords/cell-cycle-progression","display_name":"cell cycle progression","score":0.6859999895095825},{"id":"https://openalex.org/keywords/na-k-atpase-beta1-subunit","display_name":"Na,K-ATPase beta1 subunit","score":0.9629999995231628},{"id":"https://openalex.org/keywords/protein-degradation","display_name":"protein degradation","score":0.6069999933242798},{"id":"https://openalex.org/keywords/bip-grp78","display_name":"BiP/GRP78","score":0.9020000100135803},{"id":"https://openalex.org/keywords/tauroursodeoxycholic-acid","display_name":"tauroursodeoxycholic acid","score":0.8899999856948853},{"id":"https://openalex.org/keywords/protein-protein-interaction","display_name":"protein-protein interaction","score":0.718999981880188},{"id":"https://openalex.org/keywords/neurons","display_name":"neurons","score":0.7770000100135803},{"id":"https://openalex.org/keywords/type-1-diabetes","display_name":"type 1 diabetes","score":0.8140000104904175},{"id":"https://openalex.org/keywords/optic-atrophy","display_name":"optic atrophy","score":0.925000011920929}],"concepts":[{"id":"https://openalex.org/C2776756211","wikidata":"https://www.wikidata.org/wiki/Q1153641","display_name":"Wolfram syndrome","level":3,"score":0.908903956413269},{"id":"https://openalex.org/C104292427","wikidata":"https://www.wikidata.org/wiki/Q899781","display_name":"Protein subunit","level":3,"score":0.6105784177780151},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.4758427143096924},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.47069621086120605},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.45085564255714417},{"id":"https://openalex.org/C2776202225","wikidata":"https://www.wikidata.org/wiki/Q3569101","display_name":"Histone deacetylase inhibitor","level":5,"score":0.43410003185272217},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3823535740375519},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.338495135307312},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3237255811691284},{"id":"https://openalex.org/C2778305200","wikidata":"https://www.wikidata.org/wiki/Q174378","display_name":"Histone deacetylase","level":4,"score":0.2951551377773285},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.21543651819229126},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.19663193821907043},{"id":"https://openalex.org/C64927066","wikidata":"https://www.wikidata.org/wiki/Q36293","display_name":"Histone","level":3,"score":0.19120654463768005},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:etheses.bham.ac.uk:4235","doi":null,"is_oa":true,"landing_page_url":"http://etheses.bham.ac.uk/4235/1/Gharanei13PhD.pdf","pdf_url":"http://etheses.bham.ac.uk/4235/1/Gharanei13PhD.pdf","source":{"id":"https://openalex.org/S4306402357","display_name":"University of Birmingham Institutional Research Archive (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},{"id":"pmh:oai:uilis.unsyiah.ac.id:59536","doi":null,"is_oa":true,"landing_page_url":"http://uilis.unsyiah.ac.id/opentheses/items/show/59536","pdf_url":"http://uilis.unsyiah.ac.id/opentheses/items/show/59536","source":{"id":"https://openalex.org/S4377196378","display_name":"UPT. Syiah Kuala University Library (Syiah Kuala University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I187494767","host_organization_name":"Universitas Syiah Kuala","host_organization_lineage":["https://openalex.org/I187494767"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},{"id":"mag:82539290","doi":null,"is_oa":false,"landing_page_url":"https://etheses.bham.ac.uk/id/eprint/4235/","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:etheses.bham.ac.uk:4235","doi":null,"is_oa":true,"landing_page_url":"http://etheses.bham.ac.uk/4235/1/Gharanei13PhD.pdf","pdf_url":"http://etheses.bham.ac.uk/4235/1/Gharanei13PhD.pdf","source":{"id":"https://openalex.org/S4306402357","display_name":"University of Birmingham Institutional Research Archive (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8999999761581421,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320320339","display_name":"University of Birmingham","ror":"https://ror.org/03angcq70"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W82539290.pdf","grobid_xml":"https://content.openalex.org/works/W82539290.grobid-xml"},"referenced_works_count":252,"referenced_works":["https://openalex.org/W62793449","https://openalex.org/W138849845","https://openalex.org/W194103359","https://openalex.org/W1483951519","https://openalex.org/W1485747833","https://openalex.org/W1486636074","https://openalex.org/W1504496748","https://openalex.org/W1546139069","https://openalex.org/W1570548447","https://openalex.org/W1574174694","https://openalex.org/W1582101967","https://openalex.org/W1605456662","https://openalex.org/W1608295855","https://openalex.org/W1608735237","https://openalex.org/W1839239664","https://openalex.org/W1886614022","https://openalex.org/W1930219409","https://openalex.org/W1939092506","https://openalex.org/W1964290543","https://openalex.org/W1964363319","https://openalex.org/W1964394421","https://openalex.org/W1964742508","https://openalex.org/W1965453486","https://openalex.org/W1965500568","https://openalex.org/W1965893213","https://openalex.org/W1966173885","https://openalex.org/W1967056255","https://openalex.org/W1967430441","https://openalex.org/W1968213313","https://openalex.org/W1968242036","https://openalex.org/W1968981130","https://openalex.org/W1969809609","https://openalex.org/W1970108896","https://openalex.org/W1970303002","https://openalex.org/W1970765132","https://openalex.org/W1971394915","https://openalex.org/W1971519888","https://openalex.org/W1972114796","https://openalex.org/W1972305847","https://openalex.org/W1973854653","https://openalex.org/W1975167087","https://openalex.org/W1975405079","https://openalex.org/W1976161806","https://openalex.org/W1976602092","https://openalex.org/W1979405589","https://openalex.org/W1979993283","https://openalex.org/W1980131968","https://openalex.org/W1981661202","https://openalex.org/W1982979794","https://openalex.org/W1984332363","https://openalex.org/W1984767608","https://openalex.org/W1985430909","https://openalex.org/W1986721511","https://openalex.org/W1986737010","https://openalex.org/W1988276328","https://openalex.org/W1988482079","https://openalex.org/W1989374806","https://openalex.org/W1990359489","https://openalex.org/W1991845725","https://openalex.org/W1991958238","https://openalex.org/W1991999080","https://openalex.org/W1992748149","https://openalex.org/W1992813139","https://openalex.org/W1994750562","https://openalex.org/W1995041255","https://openalex.org/W1995054388","https://openalex.org/W1996720932","https://openalex.org/W1996785364","https://openalex.org/W1997320822","https://openalex.org/W2001456860","https://openalex.org/W2003831397","https://openalex.org/W2004299376","https://openalex.org/W2004828074","https://openalex.org/W2005646330","https://openalex.org/W2007157911","https://openalex.org/W2007814613","https://openalex.org/W2008757142","https://openalex.org/W2009619033","https://openalex.org/W2009880232","https://openalex.org/W2009906823","https://openalex.org/W2010852678","https://openalex.org/W2013660740","https://openalex.org/W2014146179","https://openalex.org/W2014983456","https://openalex.org/W2015066175","https://openalex.org/W2015437059","https://openalex.org/W2017119427","https://openalex.org/W2019424220","https://openalex.org/W2021206670","https://openalex.org/W2021923434","https://openalex.org/W2022516842","https://openalex.org/W2023218749","https://openalex.org/W2024256437","https://openalex.org/W2024709318","https://openalex.org/W2024955746","https://openalex.org/W2026674733","https://openalex.org/W2027558915","https://openalex.org/W2028212562","https://openalex.org/W2029215525","https://openalex.org/W2030754641","https://openalex.org/W2031735388","https://openalex.org/W2033162659","https://openalex.org/W2033624647","https://openalex.org/W2033776709","https://openalex.org/W2034213169","https://openalex.org/W2034577150","https://openalex.org/W2034792033","https://openalex.org/W2035623537","https://openalex.org/W2035802009","https://openalex.org/W2035826838","https://openalex.org/W2036411709","https://openalex.org/W2037611415","https://openalex.org/W2038467165","https://openalex.org/W2038616074","https://openalex.org/W2039420809","https://openalex.org/W2039447573","https://openalex.org/W2040570303","https://openalex.org/W2041115282","https://openalex.org/W2044495553","https://openalex.org/W2046585193","https://openalex.org/W2048086508","https://openalex.org/W2048172511","https://openalex.org/W2048456744","https://openalex.org/W2048675800","https://openalex.org/W2049808069","https://openalex.org/W2050915787","https://openalex.org/W2054096290","https://openalex.org/W2054128877","https://openalex.org/W2055591486","https://openalex.org/W2057899710","https://openalex.org/W2059081776","https://openalex.org/W2060068054","https://openalex.org/W2060574598","https://openalex.org/W2061774676","https://openalex.org/W2062562477","https://openalex.org/W2062918974","https://openalex.org/W2063734943","https://openalex.org/W2063750361","https://openalex.org/W2064950130","https://openalex.org/W2066714580","https://openalex.org/W2066744966","https://openalex.org/W2067018477","https://openalex.org/W2068699946","https://openalex.org/W2069200997","https://openalex.org/W2069643007","https://openalex.org/W2069924169","https://openalex.org/W2072310161","https://openalex.org/W2074089037","https://openalex.org/W2075226068","https://openalex.org/W2077748311","https://openalex.org/W2078485892","https://openalex.org/W2079800799","https://openalex.org/W2080295066","https://openalex.org/W2082630843","https://openalex.org/W2083154164","https://openalex.org/W2084665356","https://openalex.org/W2086355707","https://openalex.org/W2086651027","https://openalex.org/W2086692195","https://openalex.org/W2088077925","https://openalex.org/W2088169265","https://openalex.org/W2089787026","https://openalex.org/W2089894176","https://openalex.org/W2090603038","https://openalex.org/W2092011356","https://openalex.org/W2093325904","https://openalex.org/W2095395117","https://openalex.org/W2097242008","https://openalex.org/W2097647470","https://openalex.org/W2098249941","https://openalex.org/W2098873308","https://openalex.org/W2099907055","https://openalex.org/W2100347985","https://openalex.org/W2100472948","https://openalex.org/W2102493845","https://openalex.org/W2103316668","https://openalex.org/W2103483160","https://openalex.org/W2104196253","https://openalex.org/W2104933407","https://openalex.org/W2105085698","https://openalex.org/W2106542897","https://openalex.org/W2106656061","https://openalex.org/W2106775330","https://openalex.org/W2107277218","https://openalex.org/W2107601804","https://openalex.org/W2108777506","https://openalex.org/W2110064753","https://openalex.org/W2111205934","https://openalex.org/W2112286580","https://openalex.org/W2112517611","https://openalex.org/W2112949011","https://openalex.org/W2114022615","https://openalex.org/W2115706326","https://openalex.org/W2116313758","https://openalex.org/W2116657339","https://openalex.org/W2116888389","https://openalex.org/W2117691193","https://openalex.org/W2119401431","https://openalex.org/W2120122995","https://openalex.org/W2121303395","https://openalex.org/W2122291732","https://openalex.org/W2122318445","https://openalex.org/W2126480269","https://openalex.org/W2126610675","https://openalex.org/W2126793458","https://openalex.org/W2127286180","https://openalex.org/W2127848114","https://openalex.org/W2127916470","https://openalex.org/W2132152419","https://openalex.org/W2132293802","https://openalex.org/W2132694729","https://openalex.org/W2133644385","https://openalex.org/W2133992568","https://openalex.org/W2134027679","https://openalex.org/W2134295452","https://openalex.org/W2136494061","https://openalex.org/W2137925028","https://openalex.org/W2138806334","https://openalex.org/W2139575177","https://openalex.org/W2140974756","https://openalex.org/W2141901145","https://openalex.org/W2143069340","https://openalex.org/W2143342414","https://openalex.org/W2144347270","https://openalex.org/W2145119064","https://openalex.org/W2147336345","https://openalex.org/W2148899326","https://openalex.org/W2149099455","https://openalex.org/W2150188330","https://openalex.org/W2151845927","https://openalex.org/W2152398979","https://openalex.org/W2154372386","https://openalex.org/W2156894730","https://openalex.org/W2157452165","https://openalex.org/W2158116775","https://openalex.org/W2158211941","https://openalex.org/W2159586070","https://openalex.org/W2161770918","https://openalex.org/W2163725144","https://openalex.org/W2163776632","https://openalex.org/W2164419678","https://openalex.org/W2167454223","https://openalex.org/W2169612876","https://openalex.org/W2183213975","https://openalex.org/W2185096561","https://openalex.org/W2266428010","https://openalex.org/W2344103177","https://openalex.org/W2394535525","https://openalex.org/W2410871705","https://openalex.org/W2520432709","https://openalex.org/W4237139417","https://openalex.org/W4299711483"],"related_works":["https://openalex.org/W2120428000","https://openalex.org/W3155006525","https://openalex.org/W1892490551","https://openalex.org/W3205720214","https://openalex.org/W2592202568","https://openalex.org/W2116657339","https://openalex.org/W2014146179","https://openalex.org/W3013749374","https://openalex.org/W6920722198","https://openalex.org/W6958297719"],"abstract_inverted_index":{"Wolfram":[0],"Syndrome":[1],"(WS)":[2],"is":[3],"a":[4,160],"rare":[5],"autosomal":[6],"recessive":[7],"disease":[8],"characterised":[9],"by":[10,46,89,129],"insulin-dependent":[11],"diabetes":[12],"mellitus,":[13],"optic":[14],"nerve":[15],"atrophy.":[16],"The":[17,72,138],"current":[18],"study":[19,155],"demonstrated":[20,128],"that":[21,157],"neuronal":[22,196],"cells":[23,108],"depleted":[24,107,195],"of":[25,32,61,75,84,92,101,121,167],"WFS1":[26,54,106,116,158,194],"protein,":[27],"showed":[28,97,182],"significantly":[29],"elevated":[30,73],"expression":[31,60,83],"the":[33,81,118,122,143,148,164,177],"ER":[34,40,76,189],"stress":[35,41,77,190],"markers":[36],"indicating":[37],"an":[38],"enhanced":[39],"response.":[42],"This":[43],"was":[44,127,140],"accompanied":[45],"increased":[47],"apoptosis":[48,192],"and":[49,66,117,134,171,176],"impaired":[50],"cell":[51],"cycle":[52],"progression.":[53],"depletion":[55],"also":[56],"resulted":[57],"in":[58,105,131,185,193],"decreased":[59,82],"Na+/K+":[62],"ATPase":[63,68],"beta1":[64],"subunit":[65,120,166],"Vacuolar":[67],"(V-ATPase)":[69],"V1A":[70,119,165],"subunit.":[71],"expressions":[74],"markers,":[78],"but":[79,146],"not":[80,147],"pump":[85,103],"subunits,":[86],"were":[87],"reversed":[88],"adenoviral":[90],"over-expression":[91],"BiP/GRP78.":[93],"Protein":[94],"degradation":[95,100],"assays":[96],"more":[98],"rapid":[99],"both":[102],"subunits":[104],"compared":[109],"with":[110,135,163],"controls.":[111],"A":[112],"novel":[113],"interaction":[114,139,162],"between":[115],"vacuolar-type":[123],"H+-ATPase":[124],"(proton":[125],"pump)":[126],"co-immunoprecipitation":[130],"overexpression":[132],"system":[133],"endogenous":[136],"proteins.":[137],"mapped":[141],"to":[142],"WFS1-N":[144],"terminal,":[145],"C-terminal":[149],"domain.":[150],"\\n":[151,198],"\\nIn":[152],"conclusion,":[153],"this":[154],"shows":[156],"has":[159],"specific":[161],"H+":[168],"V-ATPase.":[169],"Chemical":[170],"molecular":[172],"chaperones":[173],"TUDCA,":[174],"GRP78":[175],"histone":[178],"deacetylase":[179],"inhibitor":[180],"VPA":[181],"promising":[183],"results":[184],"providing":[186],"protection":[187],"against":[188],"induced":[191],"cells.":[197]},"counts_by_year":[],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2016-06-24T00:00:00"}