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Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1085, pp. 191 - 192
Journal Article
Journal of cell science, ISSN 0021-9533, 2013, Volume 126, Issue Part 17, pp. 3961 - 3971
N-myc downstream-regulated gene 1 (NDRG1) mutations cause Charcot-Marie-Tooth disease type 4D (CMT4D). However, the cellular function of NDRG1 and how it... 
Endocytosis | IDOL | Multivesicular body | NDRG1 | Cholesterol | CLATHRIN-MEDIATED ENDOCYTOSIS | DIFFERENTIAL EXPRESSION | C DISEASE | MARIE-TOOTH NEUROPATHY | SENSORY NEUROPATHY | CELL BIOLOGY | HEREDITARY MOTOR | DEMYELINATING NEUROPATHY | ESCRT MACHINERY | CHOLESTEROL HOMEOSTASIS | DENSITY-LIPOPROTEIN RECEPTOR | Refsum Disease - metabolism | Endosomal Sorting Complexes Required for Transport - biosynthesis | Vesicular Transport Proteins - metabolism | Humans | Refsum Disease - genetics | Androstenes - pharmacology | Intracellular Signaling Peptides and Proteins - metabolism | GTP-Binding Proteins - genetics | Endosomes - metabolism | Charcot-Marie-Tooth Disease - genetics | Ubiquitination | Basic Helix-Loop-Helix Transcription Factors - metabolism | RNA Interference | Basic Helix-Loop-Helix Transcription Factors - biosynthesis | HEK293 Cells | Nerve Tissue Proteins - biosynthesis | Cell Cycle Proteins - genetics | Cell Differentiation | Cell Membrane - metabolism | Endocytosis - genetics | Lipoproteins, LDL - metabolism | Charcot-Marie-Tooth Disease - metabolism | Intracellular Signaling Peptides and Proteins - genetics | Down-Regulation | Vesicular Transport Proteins - genetics | Cell Cycle Proteins - metabolism | Ubiquitin-Protein Ligases - metabolism | Receptors, LDL - metabolism | Oligodendrocyte Transcription Factor 2 | Protein Transport - genetics | Nerve Tissue Proteins - metabolism | Animals | Cell Line, Tumor | Mice | RNA, Small Interfering | GTP-Binding Proteins - metabolism
Journal Article
Human Mutation, ISSN 1059-7794, 11/2017, Volume 38, Issue 11, pp. 1569 - 1578
Charcot‐Marie‐Tooth disease type 4D (CMT4D) is an autosomal‐recessive demyelinating form of CMT characterized by a severe distal motor and sensory neuropathy.... 
Charcot‐Marie‐Tooth | targeted next‐generation sequencing | NDRG1 | novel mutation | functional characterization | Charcot-Marie-Tooth | targeted next-generation sequencing | CMT4D | HEREDITARY MOTOR | NEUROPATHY | GENE | SH3TC2 | GENETICS & HEREDITY | EXPRESSION | ONSET | Gene Duplication | Refsum Disease - metabolism | Sequence Deletion | Humans | Refsum Disease - genetics | Male | Intracellular Signaling Peptides and Proteins - metabolism | Mutation, Missense | Charcot-Marie-Tooth Disease - genetics | Gene Knockdown Techniques | Young Adult | Cell Cycle Proteins - genetics | Adult | Female | Charcot-Marie-Tooth Disease - metabolism | Intracellular Signaling Peptides and Proteins - genetics | Receptors, LDL - genetics | rab4 GTP-Binding Proteins - metabolism | Genetic Association Studies | Cell Cycle Proteins - metabolism | Receptors, LDL - metabolism | Genotype | Sequence Analysis, DNA | Refsum Disease - diagnosis | Phenotype | Adolescent | Alleles | Protein Binding | High-Throughput Nucleotide Sequencing | Charcot-Marie-Tooth Disease - diagnosis | Amino Acid Substitution | Genetic aspects | Low density lipoproteins | Analysis | Glutamine | Lipoproteins (low density) | Cell culture | Exons | Confocal microscopy | Neuropathy | Cell surface | Proteins | Missense mutation | Transfection | Demyelination | Charcot-Marie-Tooth disease | Receptor density | Mutation | Protein transport
Journal Article
BBA - Molecular and Cell Biology of Lipids, ISSN 1388-1981, 2011, Volume 1811, Issue 9, pp. 498 - 507
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2011, Volume 42, Issue 3, pp. 368 - 380
Journal Article
Journal Article
Journal Article
Molecular and Cellular Biochemistry, ISSN 0300-8177, 7/2012, Volume 366, Issue 1, pp. 335 - 343
Journal Article