Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

• Published in: Acta neuropathologica Vol. 125; no. 4; pp. 511 - 522
• Main Authors: Teyssou, Elisa, Takeda, Takahiro, Lebon, Vincent, Boillée, Séverine, Doukouré, Brahima, Bataillon, Guillaume, Sazdovitch, Véronique, Cazeneuve, Cécile, Meininger, Vincent, LeGuern, Eric, Salachas, François, Seilhean, Danielle, Millecamps, Stéphanie
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.04.2013; Springer; Springer Nature B.V; Springer Verlag
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - metabolism; Adult; Aged; Aged, 80 and over; Amino acids; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - genetics; Amyotrophic Lateral Sclerosis - pathology; Analysis; Antibodies; Brain - pathology; DNA-Binding Proteins - genetics; DNA-Binding Proteins - metabolism; Female; Gene mutations; Genes; Genetic aspects; Genetics; Heterozygote; Human genetics; Human health and pathology; Humans; Life Sciences; Male; Medicine; Medicine & Public Health; Middle Aged; Motor neurone disease; Mutation; Neuropathology; Neurosciences; Original Paper; Pagets disease; Pathology; Patients; Proteins; Sequestosome-1 Protein; Software; Tissues and Organs; Ubiquitin; Ubiquitin - genetics; Ubiquitin - metabolism; France; Paris France; FTLD–ALS; Neuropathology; p62; Motor neuron disease; Paget’s disease; Familial and sporadic ALS

Mutations in SQSTM1 encoding the sequestosome 1/p62 protein have recently been identified in familial and sporadic cases of amyotrophic lateral sclerosis (ALS). p62 is a component of the ubiquitin inclusions detected in degenerating neurons in ALS patients. We sequenced SQSTM1 in 90 French patients...