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PLoS ONE, ISSN 1932-6203, 08/2013, Volume 8, Issue 8, p. e73944
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the selective loss of motor neurons in the spinal cord, brain stem,... 
Ubiquitin | Neuroprotection | Spinal cord | Neurosciences | Animal models | Brain stem | Superoxide dismutase | Agglomeration | Cortex (motor) | Chaperones | Neuropathy | Sclerosis | Transgenic animals | Protein folding | Rodents | Motor neurons | Cell survival | Neurodegenerative diseases | Neurons | Transgenic mice | Muscles | Amyotrophic lateral sclerosis | Superoxide | Survival | Mutation | Immunoreactivity
Journal Article
Journal Article
Cell Stem Cell, ISSN 1934-5909, 06/2016, Volume 18, Issue 6, pp. 769 - 781
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic... 
RETINAL DEGENERATION | JOUBERT-SYNDROME | CELLS | LEBER CONGENITAL AMAUROSIS | TRANSITION ZONE | MUTATION | GENES | LINKED RETINITIS-PIGMENTOSA | CEP290 | CENTROSOMAL PROTEIN | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Leber Congenital Amaurosis - pathology | Optic Disk - cytology | Retinal Pigment Epithelium - metabolism | Humans | Blindness - pathology | Male | Organogenesis - drug effects | Neoplasm Proteins - metabolism | RNA, Messenger - metabolism | Retinal Pigment Epithelium - pathology | Retinal Pigment Epithelium - ultrastructure | RNA Splicing - genetics | Antigens, Neoplasm - metabolism | Cilia - drug effects | Inheritance Patterns - genetics | Blindness - therapy | Induced Pluripotent Stem Cells - cytology | Neoplasm Proteins - genetics | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Retinal Pigment Epithelium - drug effects | rab GTP-Binding Proteins - metabolism | Antigens, Neoplasm - genetics | RNA Splicing - drug effects | Photoreceptor Cells, Vertebrate - ultrastructure | Induced Pluripotent Stem Cells - drug effects | RNA, Messenger - genetics | Exons - genetics | Fibroblasts - pathology | Cilia - metabolism | Eye Proteins - metabolism | Cell Differentiation - drug effects | Fibroblasts - drug effects | Morpholinos - pharmacology | Opsins - metabolism | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 11/2014, Volume 35, Issue 11, pp. 1354 - 1362
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2015, Volume 24, Issue 4, pp. 972 - 986
Journal Article
Journal Article
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology, ISSN 0892-6638, 2003, Volume 17, Issue 8, pp. 905 - 907
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2014, Volume 23, Issue 8, pp. 2164 - 2175
The molecular chaperone Hsp90 is important for the functional maturation of many client proteins, and inhibitors are in clinical trials for multiple... 
LEBER CONGENITAL AMAUROSIS | GENE | MUTANT RHODOPSIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | HEAT-SHOCK RESPONSE | MOUSE MODEL | KINASE | GENETICS & HEREDITY | RHODOPSIN-ARRESTIN COMPLEXES | CGMP PHOSPHODIESTERASE | QUALITY-CONTROL | DOMINANT RETINITIS-PIGMENTOSA | Retina - drug effects | Retina - metabolism | Vision, Ocular - drug effects | Rhodopsin - metabolism | Immunoenzyme Techniques | Vision, Ocular - physiology | Genes, Dominant | G-Protein-Coupled Receptor Kinase 1 - metabolism | Female | HSP90 Heat-Shock Proteins - genetics | Real-Time Polymerase Chain Reaction | Electroretinography | Genetic Predisposition to Disease | Rats, Transgenic | Tomography, Optical Coherence | Mice, Inbred C57BL | RNA, Messenger - genetics | Cells, Cultured | Rats | Retinitis Pigmentosa - genetics | Pyrimidines - pharmacology | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Rats, Sprague-Dawley | Blotting, Western | Retinitis Pigmentosa - prevention & control | Animals | Rhodopsin - genetics | HSP90 Heat-Shock Proteins - antagonists & inhibitors | G-Protein-Coupled Receptor Kinase 1 - genetics | HSP90 Heat-Shock Proteins - metabolism | Mice | Retina - pathology | Retinitis Pigmentosa - pathology | Pyridones - pharmacology | Index Medicus | Rhodopsin-arrestin complexes | Molecular genetics | Oftalmologia | Ciències de la salut | Dominant retinitis-pigmentosa | Mutant rhodopsin CGMP Phosphediesterase | Heat-shock response | Gene | Genètica molecular | Quality-control | Kinase | Leber congenital amaurosis | Mouse model | Ophthalmology | Medicina | Àrees temàtiques de la UPC
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2010, Volume 87, Issue 1, pp. 26 - 39
Journal Article