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Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia
The Journal of cell biology, ISSN 0021-9525, 05/2017, Volume 216, Issue 5, pp. 1337 - 1355
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Physiological aspects | Tubulins | Health aspects | Endoplasmic reticulum | Paralysis, Spastic | Protein-protein interactions | Phosphates | Animal models | Neurons | Abnormalities | Cytology | Mannose | Fission | Defects | Proteins | Hereditary spastic paraplegia | Paraplegia | Neurodegeneration | Rodents | Stem cells | Degeneration | Mutation | Spastic paraplegia | Endosomes | Index Medicus | 34 | 1 | s | 43
Journal Article
Journal of neurology, ISSN 0340-5354, 1/2009, Volume 256, Issue 1, pp. 104 - 108
spastic paraplegia | Neurology | Neurosciences | Medicine & Public Health | parkinsonism | SPG11 | Neuroradiology | thin corpus callosum | Parkinsonism | Thin corpus callosum | Spastic paraplegia | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Paraplegia - pathology | Parkinsonian Disorders - complications | Humans | Parkinsonian Disorders - diagnosis | Paraplegia - genetics | Male | Proteins - genetics | Magnetic Resonance Imaging | Parkinsonian Disorders - pathology | DNA Mutational Analysis | Adolescent | Polymerase Chain Reaction | Brain - pathology | Adult | Female | Parkinsonian Disorders - genetics | Gene mutations | Paralysis, Spastic | Causes of | Genetic aspects | Research | Diagnosis | Health aspects | Risk factors | Index Medicus
Journal Article
2018, ISBN 9780444640765, Volume 148
motor | autophagy | paraplegia | lipid metabolism | spasticity | Strümpell–Lorrain | lysosome | bone morphogenetic protein | thin corpus callosum | endoplasmic reticulum | Spastic Paraplegia, Hereditary - genetics | Myelin Proteolipid Protein - genetics | Humans | Genetic Variation - genetics | Spastic Paraplegia, Hereditary - pathology | Spastic Paraplegia, Hereditary - physiopathology | Protein Transport | Index Medicus
Book Chapter
Annual review of neuroscience, ISSN 0147-006X, 07/2012, Volume 35, Issue 1, pp. 25 - 47
lipid droplet | endosome | spasticity | BMP | cytokinesis | endoplasmic reticulum | Neurology | Biological and medical sciences | Nervous system as a whole | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Nervous system (semeiology, syndromes) | Spastic Paraplegia, Hereditary - genetics | Pyramidal Tracts - growth & development | Bone Morphogenetic Proteins - physiology | Endoplasmic Reticulum - genetics | Humans | Endoplasmic Reticulum - physiology | Protein Transport - physiology | Nervous System Diseases - genetics | Protein Transport - genetics | Neurogenesis - genetics | Animals | Neurogenesis - physiology | Nerve Fibers, Myelinated - physiology | Nervous System Diseases - physiopathology | Models, Neurological | Bone Morphogenetic Proteins - genetics | Pyramidal Tracts - physiology | Spastic Paraplegia, Hereditary - physiopathology | Membranes | Neurosciences | Neurons | Motor ability | Neurological disorders | Index Medicus | Limbs | Motor neurons | Hereditary spastic parplegia | Central nervous system | Peripheral nerves | Heat shock proteins | Nervous system | Pyramidal tracts | Organelles | Reviews | Endoplasmic reticulum | membrane trafficking
Journal Article
Experimental neurology, ISSN 0014-4886, 11/2014, Volume 261, pp. 518 - 539
Hereditary spastic paraplegia | Neurology | Neurodegenerative mechanisms | Phenotype | Molecular genetics | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Spastic Paraplegia, Hereditary - genetics | Humans | Genetic Diseases, X-Linked - genetics | Genotype | Spastic Paraplegia, Hereditary - pathology | Mutation - genetics | Spastic Paraplegia, Hereditary - complications | Pyramidal Tracts - pathology | Genetic Heterogeneity | Genetic research | Physiological aspects | Mitochondrial DNA | Paralysis, Spastic | Index Medicus
Journal Article
The Cerebellum, ISSN 1473-4222, 4/2017, Volume 16, Issue 2, pp. 525 - 551
Neurology | Neurosciences | Biomedicine | Neurogenetics | Neurobiology | Hereditary spastic paraparesis | Motor neuron disease | Spastic ataxias | SPG | Spastic paraplegia | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Spastic Paraplegia, Hereditary - genetics | Spastic Paraplegia, Hereditary - classification | Brain - diagnostic imaging | Spastic Paraplegia, Hereditary - diagnosis | Humans | Spastic Paraplegia, Hereditary - physiopathology | Heat shock proteins | Paralysis, Spastic | Index Medicus
Journal Article
Acta neuropathologica, ISSN 0001-6322, 9/2013, Volume 126, Issue 3, pp. 307 - 328
Medicine & Public Health | Pathology | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Spastic Paraplegia, Hereditary - genetics | Animals | Membrane Transport Proteins - genetics | Heat-Shock Proteins - metabolism | Humans | Axons - metabolism | Membrane Transport Proteins - metabolism | Spastic Paraplegia, Hereditary - pathology | Mutation - genetics | Spastic Paraplegia, Hereditary - metabolism | Disease Models, Animal | Index Medicus
Journal Article