18252231Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AHAmerican journal of human geneticsCholesterol; Cytochrome P-450 Enzyme System; Homeostasis; Spastic Paraplegia, Hereditary; Steroid HydroxylasesAmino Acid Sequence; Base Sequence; Chromosome Mapping; Cytochrome P450 Family 7; Humans; Liver; Molecular Sequence Data; Pedigree; Sequence Analysis, DNASequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet. 2008 Feb; 82(2):510-5.Am J Hum Genet2008-01-18T00:00:002008Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.prns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000595Genes & Molecular Sequences43920620.7368Amino Acid SequenceD001483Chemicals & DrugsGenes & Molecular Sequences48123290.731399Base SequenceD002874Procedures22910740.772759Chromosome MappingD002784Chemicals & Drugs1203560.84156CholesterolD003577Chemicals & Drugs49790.956799Cytochrome P-450 Enzyme SystemD008969Concepts & IdeasGenes & Molecular Sequences56030290.690324Molecular Sequence DataD008099Anatomy34612290.672325LiverAuthorship 3420712D010375Concepts & Ideas1929660.837406PedigreeD013250Chemicals & Drugs8140.993698Steroid HydroxylasesD006706Physiology2174080.832414HomeostasisD006801Living Beings2262862810.130052HumansD017422Procedures3068530.760396Sequence Analysis, DNA0.0813810.0813811authors10.2514has subject areaD000072474110.999898Cytochrome P450 Family 7D015419Disorders380.995827Spastic Paraplegia, HereditaryUniversity of ChicagoAfifHentatiAfif Hentati41.78927490000000-87.601250000000001451Hentati, AfifClinical Assistant Professortrue1Clinical Assistant ProfessorClinical Assistant ProfessorBSD-Neurology