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Property "Has-20abstract" (as page type) with input value "This-20work-20describes-20the-20analysis-20of-20a-20novel,-20isolated,-20autosomal-20dominant-20form-20of-20Fanconi´s-20syndrome,-20a-20disorder-20of-20the-20renal-20proximal-20tubule-20associated-20with-20decreased-20reapsorption-20of-20solutes-20from-20the-20primary-20urine.-20This-20yet-20unknown-20Fanconi´s-20syndrome-20is-20evoked-20by-20a-20mutation-20in-20the-20third-20codon-20of-20the-20peroxisomal-20protein-20enoyl-2DCoA-20hydratase-20-2F-20L-2D3-2Dhydroxyacyl-2DCoA-20dehydrogenase-20(EHHADH),-20also-20called-20“Fanconi-2Dassociated-20protein”,-20which-20results-20in-20the-20substitution-20of-20a-20glutamic-20acid-20residue-20with-20lysine-20(p.E3K).-20By-20complementing-20proteomic-20and-20metabolomic-20analyses-20of-20wildtype-2D-20and-20mutant-2DEHHADH-2Dexpressing-20proximal-20tubular-20cell-20lines-20(LLC-2DPK1)-20with-20different-20biochemical-20and-20cell-20biological-20investigations,-20the-20underlying-20pathomechanism-20is-20elucidated.-20The-20E3K-2Dmutation-20leads-20to-20the-20erroneous-20localization-20of-20peroxisomal-20EHHADH-20into-20mitochondria-20causing-20a-20mitochondriopathy.-20Upon-20mistargeting-20of-20EHHADHMUT-20into-20mitochondria,-20it-20replaces-20an-20alpha-20subunit-20of-20the-20mitochondrial-20trifunctional-20protein-20(MTP).-20The-20MTP-20normally-20builds-20a-20heterooctamer-20consisting-20of-20four-20alpha-20and-20four-20beta-20subunits-20and-20is-20involved-20in-20mitochondrial-20fatty-20acid-20β-2Doxidation.-20The-20incorporation-20into-20MTP-20impairs-20both-20mitochondrial-20β-2Doxidation-20and-20respiratory-20supercomplex-20assembly,-20leading-20to-20a-20decreased-20oxidative-20phosphorylation-20capacity.-20Impairment-20of-20the-20former-20is-20shown-20by-20the-20characteristic-20accumulation-20of-20hydroxyacyl-2D,-20enoyl-2D-20and-20acylcarnitines-20in-20the-20cell-20culture-20supernatant,-20thus-20resembling-20the-20situation-20in-20patients-20with-20MTP-20and-2For-20LCHAD-20deficiency.-20The-20impaired-20mitochondrial-20β-2Doxidation-20consequently-20decreases-20cellular-20long-2Dchain-20fatty-20acid-20uptake-20and-20the-20acetyl-2DCoA-20production-20in-20EHHADHMUT-20cell-20line.-20In-20addition,-20EHHADHMUT-20is-20also-20incorporated-20into-20respiratory-20supercomplexes,-20thereby-20disturbing-20their-20assembly,-20as-20shown-20by-20blue-20native-20PAGE.-20As-20a-20result-20of-20impaired-20mitochondrial-20β-2Doxidation-20and-20diminished-20supercomplex-20assembly-20the-20EHHADHMUT-20cell-20line-20shows-20a-20decreased-20oxidative-20phosphorylation-20capacity-20and-20reduced-20ATP-20generation.-20This-20mitochondriopathy-20results-20in-20the-20decreased-20tubular-20reabsorption-20of-20electrolytes-20and-20low-2Dmolecular-2Dweight-20proteins,-20leading-20to-20the-20Fanconi´s-20syndrome." contains invalid characters or is incomplete and therefore can cause unexpected results during a query or annotation process.

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