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NATURE COMMUNICATIONS, ISSN 2041-1723, 09/2019, Volume 10
N-6-threonyl-carbamoylation of adenosine 37 of ANN-type tRNAs (t(6)A) is a universal modification essential for translational accuracy and efficiency. The... 
SUITE | METHYLATION | SMALL-ANGLE SCATTERING | BIOSYNTHESIS | MULTIDISCIPLINARY SCIENCES | KEOPS-COMPLEX | THREONYLCARBAMOYLADENOSINE | MODEL | WDR73 | NEPHROTIC SYNDROME | FAMILY
Journal Article
Annals of Neurology, ISSN 0364-5134, 12/2018, Volume 84, Issue 6, pp. 814 - 828
Objective Galloway-Mowat syndrome (GAMOS) is a neural and renal disorder, characterized by microcephaly, brain anomalies, and early onset nephrotic syndrome.... 
COMPLEX | GENE | WDR73 | SPECTRUM | NEPHROTIC SYNDROME | NEUROSCIENCES | CLINICAL NEUROLOGY | Brain | Dysplasia | Autopsies | Immunoprecipitation | Transcription | Splicing | Mitosis | Exons | Zebrafish | Nephrotic syndrome | Microcephaly | Proteins | Atrophy | Microencephaly | Mutation | Linkage analysis | Anomalies
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 09/2019, Volume 62, Issue 9, p. 103550
Galloway-Mowat syndrome (GAMOS [MIM ]) is a rare autosomal recessive disorder that manifests as a combination of nephrotic syndrome, brain abnormalities and... 
NEURODEGENERATION | MUTATIONS | WDR73 | SPECTRUM | NEPHROTIC SYNDROME | GENETICS & HEREDITY
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | GENETICS & HEREDITY | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Life Sciences
Journal Article
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1021 - 1028
textabstractInfantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal... 
optic atrophy | basal ganglia | retinopathy | SCAR5 | WDR73 | cerebellar atrophy | Galloway–Mowat | intellectual disability | Cerebellar atrophy | Basal ganglia | Intellectual disability | Optic atrophy | Retinopathy | Galloway-Mowat | PROTEIN | ATROPHY | CONGENITAL CEREBELLAR-ATAXIA | PATTERNS | FAMILY | GENE | GALLOWAY-MOWAT-SYNDROME | GENETICS & HEREDITY | DISORDER | NEPHROTIC SYNDROME | CAMOS | Neuroimaging | Heredodegenerative Disorders, Nervous System - genetics | Microcephaly - genetics | Humans | Child, Preschool | Glomerulonephritis - diagnosis | Molecular Sequence Data | Male | Brain - abnormalities | Young Adult | Hernia, Hiatal - genetics | DNA Mutational Analysis | Nephrosis - diagnosis | Adult | Female | Child | Amino Acid Sequence | Genetic Association Studies | Glomerulonephritis - genetics | Microcephaly - diagnosis | Heredodegenerative Disorders, Nervous System - diagnosis | Nephrosis - genetics | Proteins - genetics | Phenotype | Sequence Alignment | Biopsy | Pedigree | Adolescent | Brain - pathology | Mutation | Proteins - chemistry | Hernia, Hiatal - diagnosis | Cohort Studies | Genetic aspects | Diagnostic imaging | Kidney diseases | Mental illness | Neurodegeneration | Intellectual disabilities | Life Sciences | Human health and pathology | Genetics | Human genetics | short stature | exome sequencing | Galloway-Mowat syndrome | recessive
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 12/2018, Volume 13, Issue 1, pp. 226 - 9
Journal Article
Journal Article
BMC Ophthalmology, ISSN 1471-2415, 06/2018, Volume 18, Issue 1, pp. 147 - 4
Journal Article
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