{"id":"https://openalex.org/W1564094776","doi":null,"title":"Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.","display_name":"Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.","publication_year":1996,"publication_date":"1996-06-01","ids":{"openalex":"https://openalex.org/W1564094776","mag":"1564094776","pmid":"https://pubmed.ncbi.nlm.nih.gov/8651290","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1915047"},"language":"en","primary_location":{"id":"pmh:oai:pubmedcentral.nih.gov:1915047","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1915047","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1915047","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5002919033","display_name":"Val\u00e9rie Feigenbaum","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210163467","display_name":"H\u00f4pital Saint-Vincent-de-Paul","ror":"https://ror.org/03vw2zn10","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210163467"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"V Feigenbaum","raw_affiliation_strings":["INSERM U342, H\u00f4pital Saint-Vincent de Paul, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U342, H\u00f4pital Saint-Vincent de Paul, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210163467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025449346","display_name":"G Lombard-Platet","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Lombard-Platet","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082184770","display_name":"Sylvie Guidoux","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Guidoux","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042020906","display_name":"Claude\u2010Olivier Sarde","orcid":"https://orcid.org/0000-0003-3839-0668","observed_orcids":["https://orcid.org/0000-0003-3839-0668"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C O Sarde","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009591144","display_name":"Jean\u2010Louis Mandel","orcid":"https://orcid.org/0000-0002-0535-6589","observed_orcids":["https://orcid.org/0000-0002-0535-6589"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J L Mandel","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5004902309","display_name":"Patrick R. Aubourg","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P Aubourg","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":7.7361,"has_fulltext":false,"cited_by_count":99,"citation_normalized_percentile":{"value":0.98219814,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"58","issue":"6","first_page":"1135","last_page":"44"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/x-linked-adrenoleukodystrophy","display_name":"X-linked adrenoleukodystrophy","score":1.0},{"id":"https://openalex.org/keywords/abc-transporters","display_name":"ABC transporters","score":0.5600000023841858},{"id":"https://openalex.org/keywords/very-long-chain-fatty-acids","display_name":"very long chain fatty acids","score":0.7450000047683716},{"id":"https://openalex.org/keywords/fatty-acid-beta-oxidation","display_name":"fatty acid beta-oxidation","score":0.8619999885559082},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.949999988079071},{"id":"https://openalex.org/keywords/heterozygous-carrier-detection","display_name":"heterozygous carrier detection","score":0.6949999928474426},{"id":"https://openalex.org/keywords/x-chromosome-inactivation","display_name":"X chromosome inactivation","score":0.8830000162124634},{"id":"https://openalex.org/keywords/protein-expression","display_name":"protein expression","score":0.6240000128746033},{"id":"https://openalex.org/keywords/peroxisomes","display_name":"peroxisomes","score":0.6579999923706055}],"concepts":[{"id":"https://openalex.org/C2777150068","wikidata":"https://www.wikidata.org/wiki/Q366964","display_name":"Adrenoleukodystrophy","level":4,"score":0.8539116382598877},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7882385849952698},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.7276666164398193},{"id":"https://openalex.org/C44312359","wikidata":"https://www.wikidata.org/wiki/Q286958","display_name":"ATP-binding cassette transporter","level":4,"score":0.6455167531967163},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6175472736358643},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5736461877822876},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5675686597824097},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5035321116447449},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4857090413570404},{"id":"https://openalex.org/C118892022","wikidata":"https://www.wikidata.org/wiki/Q7834587","display_name":"Transmembrane domain","level":3,"score":0.45757317543029785},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41892209649086},{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.2740103304386139},{"id":"https://openalex.org/C149011108","wikidata":"https://www.wikidata.org/wiki/Q652985","display_name":"Transporter","level":3,"score":0.09813147783279419}],"mesh":[{"descriptor_ui":"D000074063","descriptor_name":"ATP Binding Cassette Transporter, Subfamily D, Member 1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000224","descriptor_name":"Addison Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000326","descriptor_name":"Adrenoleukodystrophy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004586","descriptor_name":"Electrophoresis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007962","descriptor_name":"Leukocytes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017398","descriptor_name":"Alternative Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018528","descriptor_name":"ATP-Binding Cassette Transporters","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmh:oai:pubmedcentral.nih.gov:1915047","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1915047","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"},{"id":"pmid:8651290","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8651290","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of human genetics","raw_type":"Journal Article"},{"id":"mag:1564094776","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8651290","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:1915047","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1915047","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W124504601","https://openalex.org/W272530661","https://openalex.org/W1604084489","https://openalex.org/W1605758427","https://openalex.org/W1606277396","https://openalex.org/W1966799030","https://openalex.org/W1970673448","https://openalex.org/W1985594307","https://openalex.org/W2022451727","https://openalex.org/W2024526192","https://openalex.org/W2033265323","https://openalex.org/W2037167329","https://openalex.org/W2049956690","https://openalex.org/W2051608947","https://openalex.org/W2060401928","https://openalex.org/W2062893783","https://openalex.org/W2066171458","https://openalex.org/W2075612323","https://openalex.org/W2084597120","https://openalex.org/W2089183200","https://openalex.org/W2093402616","https://openalex.org/W2093956895","https://openalex.org/W2095072855","https://openalex.org/W2097239134","https://openalex.org/W2103253464","https://openalex.org/W2106485907","https://openalex.org/W2124230153","https://openalex.org/W2148385659","https://openalex.org/W2155316089","https://openalex.org/W2162097287","https://openalex.org/W2167246280","https://openalex.org/W2344245373","https://openalex.org/W4254363595"],"related_works":["https://openalex.org/W1604084489","https://openalex.org/W2060401928","https://openalex.org/W74544637","https://openalex.org/W2077384339","https://openalex.org/W2155316089","https://openalex.org/W36652726","https://openalex.org/W1605758427","https://openalex.org/W1872027886","https://openalex.org/W2134676206","https://openalex.org/W1975002813"],"abstract_inverted_index":{"X-linked":[0],"adrenoleukodystrophy":[1],"(ALD),":[2],"a":[3,20,23,116,189,223,254],"neurodegenerative":[4],"disorder":[5],"associated":[6],"with":[7,89,219],"impaired":[8],"beta-oxidation":[9],"of":[10,38,58,67,78,92,120,154,158,180,185,192,210,212,225,235,244,256],"very-long-chain":[11],"fatty":[12],"acids":[13],"(VLCFA),":[14],"is":[15],"due":[16,230],"to":[17,127,135,231,259],"mutations":[18,59,103,122,125,182,198],"in":[19,42,76,97,132,145,150,170,188,200,246,253],"gene":[21,41,267],"encoding":[22],"peroxisomal":[24],"ATP-binding":[25,156],"cassette":[26],"(ABC)":[27],"transporter":[28],"(ALD":[29],"protein":[30],"[ALDP]).":[31],"We":[32],"analyzed":[33],"the":[34,39,56,85,90,93,146,151,155,242,265],"open":[35],"reading":[36],"frame":[37],"ALD":[40,45,113,162,217,257,266],"44":[43,79],"French":[44],"kindred":[46,218],"by":[47,62],"using":[48],"SSCP":[49],"or":[50,133],"denaturing":[51],"gradient-gel":[52],"electrophoresis":[53],"and":[54,64,81,105,143,149,195,227],"studied":[55,183],"effect":[57],"on":[60],"ALDP":[61,168,193,202,221,245],"immunocytofluorescence":[63],"western":[65],"blotting":[66],"fibroblasts":[68,172,205],"and/or":[69,173,206],"white":[70,174,207,247],"blood":[71,175,208,248],"cells.":[72,176],"Mutations":[73],"were":[74,82,123],"detected":[75],"37":[77,121],"kindreds":[80],"distributed":[83],"over":[84],"whole":[86],"protein-coding":[87],"region,":[88],"exception":[91],"C":[94],"terminus":[95],"encoded":[96],"exon":[98],"10.":[99],"Except":[100],"for":[101],"two":[102],"(delAG1801":[104],"P560L)":[106],"observed":[107],"four":[108],"times":[109],"each,":[110],"nearly":[111],"every":[112],"family":[114],"has":[115,269],"different":[117],"mutation.":[118],"Twenty-four":[119],"missense":[124,181,197],"leading":[126],"amino":[128],"acid":[129],"changes":[130],"located":[131],"close":[134],"putative":[136],"transmembrane":[137],"segments":[138],"(TMS":[139],"2,":[140],"3,":[141],"4,":[142],"5),":[144],"EAA-like":[147],"motif":[148],"nucleotide":[152],"fold":[153],"domain":[157],"ALDP.":[159],"Of":[160],"38":[161],"patients":[163],"tested,":[164],"27":[165],"(71%)":[166],"lacked":[167],"immunoreactivity":[169,229],"their":[171],"More":[177],"than":[178],"half":[179],"(11":[184],"21)":[186],"resulted":[187,199],"complete":[190],"lack":[191],"immunoreactivity,":[194],"six":[196],"decreased":[201],"expression.":[203],"The":[204],"cells":[209,249],"15":[211,213],"heterozygous":[214,236,261],"carrier":[215],"from":[216],"no":[220],"showed":[222],"mixture":[224],"positive-":[226],"negative-ALDP":[228],"X-inactivation.":[232],"Since":[233],"5%-15%":[234],"women":[237],"have":[238],"normal":[239],"VLCFA":[240],"levels,":[241],"immunodetection":[243],"can":[250],"be":[251],"applicable":[252],"majority":[255],"kindred,":[258],"identify":[260],"women,":[262],"particularly":[263],"when":[264],"mutation":[268],"not":[270],"yet":[271],"been":[272],"identified.":[273]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":3},{"year":2013,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}