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BBA - Molecular Basis of Disease, ISSN 0925-4439, 09/2012, Volume 1822, Issue 9, pp. 1430 - 1441
Journal Article
Developmental Disabilities Research Reviews, ISSN 1940-5510, 06/2013, Volume 17, Issue 3, pp. 187 - 196
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2016, Volume 117, Issue 3, pp. 313 - 321
Journal Article
Biochimica et Biophysica Acta - Molecular Basis of Disease, ISSN 0925-4439, 09/2012, Volume 1822, Issue 9, pp. 1337 - 1342
Peroxisome is a single-membrane organelle in eukaryotes. The functional importance of peroxisomes in humans is highlighted by peroxisome-deficient peroxisome... 
Membrane protein transporter | Classes I and II import pathway | CHO cell mutant | Peroxisome biogenesis disorder | Peroxin | Membrane biogenesis | NEURONAL MIGRATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | PEX3P | COMPLEMENTATION GROUP G | PEX16 GENE | PHENOTYPES | IMPORT | BIOPHYSICS | ZELLWEGER-SYNDROME | ENDOPLASMIC-RETICULUM | MUTATIONS | PROTEINS
Journal Article
Autophagy, ISSN 1554-8627, 05/2017, Volume 13, Issue 5, pp. 991 - 994
Peroxisome biogenesis disorders (PBDs) is a group of diseases caused by mutations in one of the peroxins, proteins responsible for biogenesis of the... 
peroxin | ATPase | peroxisome biogenesis disorder | PEX6 | PEX5 | pexophagy | peroxisome | PEX1 | PEX15 | PEX26 | PROTEIN | FUSION | VESICLES | MOUSE | PEX1P | AUTOPHAGY | ZELLWEGER SPECTRUM | ATPASES | CELL BIOLOGY | IMPORT | PATHWAY | Animals | Humans | Ubiquitin - metabolism | Peroxisomal Disorders - metabolism | Protein Transport - physiology | Autophagy - physiology | Intracellular Membranes - metabolism | Peroxisomes - metabolism
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 09/2012, Volume 1822, Issue 9, pp. 1326 - 1336
Journal Article
Journal Article
Developmental Biology, ISSN 0012-1606, 11/2014, Volume 395, Issue 1, pp. 84 - 95
Peroxisome biogenesis disorders (PBD) are autosomal recessive disorders in humans characterized by skeletal, eye and brain abnormalities. Despite the fact that... 
Peroxisome | Synapse formation | Neuromuscular junction | Acetylcholine receptor | Axon integrity | MYELINATION | DEVELOPMENTAL BIOLOGY | TANDEM MASS-SPECTROMETRY | X-LINKED ADRENOLEUKODYSTROPHY | GLIAL-CELLS | OLIGODENDROCYTES | IMPORT | AXONAL LOSS | GENE | ZELLWEGER-SYNDROME | SCHWANN-CELLS | Immunohistochemistry | Humans | Molecular Sequence Data | Male | Muscle, Skeletal - innervation | Mice, 129 Strain | Motor Endplate - physiology | Sciatic Nerve - embryology | Embryo, Mammalian - metabolism | Sciatic Nerve - metabolism | Spinal Cord Diseases - metabolism | Peroxins | Muscle, Skeletal - embryology | Peripheral Nervous System Diseases - genetics | Embryo, Mammalian - ultrastructure | Disease Models, Animal | Amino Acid Sequence | Microscopy, Electron, Transmission | Peripheral Nervous System Diseases - embryology | Mice, Inbred C57BL | Cells, Cultured | Peroxisomal Disorders - metabolism | Receptors, Cytoplasmic and Nuclear - genetics | Peroxisomal Disorders - embryology | Peroxisomes - metabolism | Mice, Knockout | Spinal Cord Diseases - genetics | Action Potentials - physiology | Peripheral Nervous System Diseases - metabolism | Sequence Homology, Amino Acid | Microscopy, Confocal | Motor Activity - genetics | Animals | Embryo, Mammalian - cytology | Peroxisomal Disorders - genetics | Spinal Cord Diseases - embryology | Peroxisomes - ultrastructure | Receptors, Cytoplasmic and Nuclear - metabolism | Proteins | Nervous system diseases | Growth | Analysis | Fetus | Biosynthesis | Cells | Medical colleges | Stem cells | peroxisome | neuromuscular junction | axon integrity | synapse formation
Journal Article
Brain and Development, ISSN 0387-7604, 01/2019, Volume 41, Issue 1, pp. 57 - 65
Mutations in cause peroxisome biogenesis disorder (PBD). Zellweger syndrome characterized by neurological dysfunction, dysmorphic features, liver disease and... 
Zellweger syndrome | PEX16 gene | Peroxisome biogenesis disorder | Atypical variant | DIAGNOSIS | ACID | PHENOTYPE | CLINICAL NEUROLOGY | GENE | COMPLEMENTATION | ZELLWEGER-SYNDROME | MUTATION | SPECTRUM | MOLECULAR-BASIS | Medical colleges | Metabolites | Analysis | Liver | Biosynthesis | Paralysis | Kidney diseases | Fatty acids
Journal Article