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One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia
(Elsevier Science Bv, 2016)
Background: VCP (valosin-containing protein gene) variants have been associated with peripheral and central neurodegenerative processes, including inclusion body myopathy (IBM), Paget disease of bone (PDB), frontotemporal ...
Bioinformatic Studies for the Identification of Possible Therapeutic Targets in Amyotrophic Lateral Sclerosis (ALS) Disease: Estudios bioinformáticos para la identificación de posibles dianas terapéuticas en la enfermedad de Esclerosis Lateral Amiotrófica (ELA)
(Universidad Técnica de Ambato - FCIAL, 2023)
A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
(Associação Brasileira de Divulgação Científica, 2011)
Inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD) is a progressive and usually misdiagnosed autosomal dominant disorder. It is clinically characterized by a triad of features: ...
Estudio de la purificación de proteasomas humanos y de su modulación por electrófilos
(Universidad ORT Uruguay, 2016)
La investigación aquí expuesta se basa en la existencia de un solapamiento de los sistemas de señalización inmune y metabólico a través del sistema ubiquitina-proteasoma (SUP) y en evidencias que señalan la susceptibilidad ...