000			nab a22 7a 4500
999			_c17836 _d17836
003			PC17836
005			20240507141650.0
008			240426b xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_93399 _aRodríguez García, María Elena _eInstituto de Investigación imas12
100			_91158 _aMartín Hernández, Elena _eUnidad de Enfermedades Metabólicas y Mitocondriales
100			_91850 _aMartínez de Aragón Calvo, Ana _eRadiodiagnóstico
100			_9657 _aGarcía Silva, María Teresa _eUnidad de Enfermedades Metabólicas y Mitocondriales
100			_91159 _aQuijada Fraile, Pilar _ePediatría
100			_91007 _aArenas Barbero, Joaquín _eInstituto de Investigación
100			_93056 _aMartín, Miguel Ángel _eInstituto de investigación imas12
100			_92420 _aMartinez Azorin, Francisco _eInstituto de Investigación i+12
245	0	0	_aFirst missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking. _h[caso clínico]
260			_bNeurogenetics, _c2016
300			_a17(1):51-6.
500			_aFormato Vancouver: Rodríguez García ME, Martín Hernández E, de Aragón AM, García Silva MT, Quijada Fraile P, Arenas J et al. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking. Neurogenetics. 2016 Jan;17(1):51-6.
501			_aPMID: 26445863
504			_aContiene 10 referencias
520			_aWe report the clinical and genetic findings in a Spanish boy who presented MEGDEL syndrome, a very rare inborn error of metabolism. Whole-exome sequencing uncovered a new homozygous mutation in the serine active site containing 1 (SERAC1) gene, which is essential for both mitochondrial function and intracellular cholesterol trafficking. Functional studies in patient fibroblasts showed that p.D224G mutation affects the intracellular cholesterol trafficking. Only three missense mutations in this gene have been described before, being p.D224G the first missense mutation outside of the SERAC1 serine-lipase domain. Therefore, we conclude that the defect in cholesterol trafficking is not limited to alterations in this specific part of the protein.
710			_9625 _aInstituto de Investigación imas12
710			_9446 _aServicio de Pediatría-Neonatología
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc17836.pdf _ySolicitar documento
942			_2ddc _cCAS _n0