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Human genetics, ISSN 1432-1203, 07/2018, Volume 138, Issue 8-9, pp. 1051 - 1069
Journal Article
Molecular cell, ISSN 1097-2765, 09/2016, Volume 63, Issue 5, pp. 781 - 795
Mutations in the human autophagy gene EPG5 cause the multisystem disorder Vici syndrome. Here we demonstrated that EPG5 is a Rab7 effector that determines the... 
RAB effector | LC3 | autophagosome maturation | epg-5 | SNARE | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Cataract - pathology | Qb-SNARE Proteins - metabolism | R-SNARE Proteins - metabolism | Caenorhabditis elegans Proteins - metabolism | Qb-SNARE Proteins - genetics | rab GTP-Binding Proteins - genetics | Endosomes - metabolism | Lysosomes - metabolism | Qc-SNARE Proteins - metabolism | Agenesis of Corpus Callosum - genetics | Endosomes - ultrastructure | Qa-SNARE Proteins - genetics | Autophagy - genetics | Synaptosomal-Associated Protein 25 - genetics | rab GTP-Binding Proteins - metabolism | Agenesis of Corpus Callosum - metabolism | Amino Acid Sequence | Caenorhabditis elegans - metabolism | Membrane Fusion | Signal Transduction | Caenorhabditis elegans - genetics | R-SNARE Proteins - genetics | Gene Expression Regulation | Autophagosomes - metabolism | Cataract - metabolism | Agenesis of Corpus Callosum - pathology | Autophagosomes - ultrastructure | Lysosomes - ultrastructure | Proteins - genetics | Sequence Homology, Amino Acid | Sequence Alignment | Animals | Proteins - metabolism | Qa-SNARE Proteins - metabolism | Protein Binding | Qc-SNARE Proteins - genetics | Cataract - genetics | Synaptosomal-Associated Protein 25 - metabolism | HeLa Cells | Caenorhabditis elegans Proteins - genetics | Yuan (China) | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 245 - 257
Journal Article
Journal Article
American journal of human genetics, ISSN 0002-9297, 06/2015, Volume 96, Issue 6, pp. 971 - 978
Heparan and chondroitin/dermatan sulfated proteoglycans have a wide range of roles in cellular and tissue homeostasis including growth factor function,... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Immunohistochemistry | Osteochondrodysplasias - pathology | Retinal Detachment - pathology | Humans | Cataract - pathology | Molecular Sequence Data | Male | Retinal Detachment - drug therapy | Hearing Disorders - genetics | Osteochondrodysplasias - drug therapy | Osteochondrodysplasias - genetics | Base Sequence | Osteoporosis - diagnostic imaging | Diphosphonates - therapeutic use | Craniofacial Abnormalities - pathology | Osteoporosis - genetics | Pentosyltransferases - blood | Real-Time Polymerase Chain Reaction | Craniofacial Abnormalities - genetics | Frameshift Mutation - genetics | Pentosyltransferases - genetics | Eye Diseases, Hereditary - pathology | Craniofacial Abnormalities - drug therapy | Retinal Detachment - genetics | Sequence Analysis, DNA | Eye Diseases, Hereditary - drug therapy | Eye Diseases, Hereditary - genetics | Radiography | Homozygote | Exome - genetics | Pedigree | Hearing Disorders - pathology | Cataract - genetics | Cataract - drug therapy | Genetic disorders | Proteoglycans | Gene mutations | Physiological aspects | Nucleotide sequencing | Identification and classification | Health aspects | Methods | DNA sequencing | Homeostasis | Genotype & phenotype | Genetics | Mutation | RNA-protein interactions | Index Medicus | Report
Journal Article
PLoS genetics, ISSN 1553-7404, 03/2019, Volume 15, Issue 3, pp. e1007605 - e1007605
.... Genetic analysis of 85 unrelated mutation negative probands with Martsolf or Martsolf-like syndromes identified two individuals with different homozygous null mutations in ITPA, the gene encoding... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cardiomyopathy, Dilated - enzymology | Humans | Pyrophosphatases - deficiency | Pyrophosphatases - genetics | Child, Preschool | Male | Metabolism, Inborn Errors - enzymology | Intellectual Disability - genetics | RNA - genetics | DNA, Mitochondrial - genetics | DNA Mutational Analysis | Base Sequence | Intellectual Disability - enzymology | Female | Mouse Embryonic Stem Cells - enzymology | Cataract - enzymology | RNA - metabolism | Cardiomyopathy, Dilated - genetics | DNA, Mitochondrial - metabolism | Inosine - metabolism | Metabolism, Inborn Errors - genetics | Hypogonadism - enzymology | Mice, Knockout | Whole Exome Sequencing | Hypogonadism - genetics | Homozygote | Animals | Pedigree | Cataract - genetics | Mice | Mutation | RNA | Analysis | Genes | Genomics | Genetic aspects | Genetic transcription | Genetic translation | Cardiomyopathy, Dilated | Causes of | Cataracts | Neurosciences | Dehydrogenases | Transcription | Cardiomyopathy | Epilepsy | Genomes | Mitochondrial DNA | Genomic instability | Mitochondria | Encephalopathy | Genetic analysis | Genetics | Null cells | Pyrophosphatase | Supervision | Medical research | Kidneys | Gene expression | Children & youth | Medicine | Microencephaly | Dilated cardiomyopathy | Proteomes | Cancer | Index Medicus
Journal Article
Human genetics, ISSN 0340-6717, 2/2017, Volume 136, Issue 2, pp. 205 - 225
Journal Article