[PDF] A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. | Semantic Scholar Skip to search formSkip to main content> Semantic Scholar's Logo Search Sign InCreate Free Account You are currently offline. Some features of the site may not work correctly. DOI:10.1093/hmg/ddt434 Corpus ID: 17331046A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. @article{Boccuto2014AMI, title={A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.}, author={L. Boccuto and K. Aoki and H. Flanagan-Steet and C. Chen and Xiang Fan and F. Bartel and Marharyta Petukh and Ayla R Pittman and Robert Saul and Alka Chaubey and E. Alexov and M. Tiemeyer and R. Steet and C. Schwartz}, journal={Human molecular genetics}, year={2014}, volume={23 2}, pages={ 418-33 } } L. Boccuto, K. Aoki, +11 authors C. Schwartz Published 2014 Biology, Medicine Human molecular genetics 'Salt & Pepper' syndrome is an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. High-density SNP array analysis performed on siblings first described with this syndrome detected four shared regions of loss of heterozygosity (LOH). Whole-exome sequencing narrowed the candidate region to chromosome 2p11.2. Sanger sequencing confirmed a homozygous c.994G>A transition (p… Expand View on PubMed academic.oup.com Save to Library Create Alert Cite Launch Research Feed Share This Paper 102 CitationsHighly Influential Citations 6 Background Citations 39 Methods Citations 5 Results Citations 4 View All Figures, Tables, and Topics from this paper figure 1 table 1 figure 2 table 2 figure 3 figure 4 figure 5 figure 6 figure 7 figure 8 figure 9 figure 10 figure 11 View All 13 Figures & Tables Gangliosides Neurocutaneous Syndromes Glycosphingolipids Epilepsy N-Acetylneuraminic Acid Choreoathetosis Embryo Loss of Heterozygosity Cohen syndrome Anabolism Zebrafish Intellectual Disability Transcript Cell Death Glycolipids Autosomal recessive inheritance Pigmentation Apoptosis Nerve Tissue Whole Exome Sequencing Scoliosis, unspecified Heterozygote Morpholinos Sialyltransferases Neurogenesis 102 Citations Citation Type Citation Type All Types Cites Results Cites Methods Cites Background Has PDF Publication Type Author More Filters More Filters Filters Sort by Relevance Sort by Most Influenced Papers Sort by Citation Count Sort by Recency Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation. M. Trinchera, R. Parini, Rossella Indellicato, Ruben Domenighini, F. Dall'Olio Medicine Molecular genetics and metabolism 2018 11 Save Alert Research Feed ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis E. Gordon-Lipkin, J. Cohen, S. Srivastava, B. Soares, E. Levey, A. Fatemi Medicine Journal of child neurology 2018 2 Highly Influenced View 7 excerpts, cites background and results Save Alert Research Feed GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome‐like phenotype J. Lee, Y. Yoo, +4 authors J. Chae Biology, Medicine American journal of medical genetics. Part A 2016 24 Highly Influenced View 8 excerpts, cites methods and background Save Alert Research Feed Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation Rossella Indellicato, R. Parini, +6 authors M. Trinchera Biology, Medicine Glycobiology 2019 5 Highly Influenced View 9 excerpts, cites background Save Alert Research Feed Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice R. H. Bhuiyan, Y. Ohmi, Yuki Ohkawa, P. Zhang, K. Furukawa Biology, Medicine Neuroscience 2019 11 Save Alert Research Feed Congenital Disorders of Glycosylation from a Neurological Perspective J. Paprocka, A. Jezela-Stanek, A. Tylki-Szymańska, S. Grunewald Medicine Brain sciences 2021 PDF Save Alert Research Feed The Link between Gaucher Disease and Parkinson’s Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism Rossella Indellicato, M. Trinchera Biology, Medicine International journal of molecular sciences 2019 12 PDF Save Alert Research Feed Development and Validation of UPLC/MS/MS Methods for Quantification of Gangliosides in the Clinical Study of Ganglioside GM3 Synthase Deficiency Q. Huang Chemistry 2016 Highly Influenced View 6 excerpts, cites background Save Alert Research Feed Identification of the molecular origins of disease in a cohort of patients with suspected congenital disorders of glycosylation (CDG) Sahar Sabry Zaki Tlep Medicine 2016 Save Alert Research Feed Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and Smith–Lemli–Opitz Syndrome Presenting in the Neonate J. Thomas, C. Greene, G. Berry Medicine 2012 Save Alert Research Feed ... 1 2 3 4 5 ... References SHOWING 1-10 OF 79 REFERENCES SORT BYRelevance Most Influenced Papers Recency Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase M. Simpson, H. Cross, +13 authors A. Crosby Biology, Medicine Nature Genetics 2004 297 PDF Save Alert Research Feed Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts. Yihui Liu, Yan Su, M. Wiznitzer, O. Epifano, S. Ladisch Biology, Medicine Glycobiology 2008 41 PDF Save Alert Research Feed ST3GAL3 mutations impair the development of higher cognitive functions. H. Hu, Katinka Eggers, +13 authors A. Kuss Biology, Medicine American journal of human genetics 2011 82 Save Alert Research Feed Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency K. Fragaki, S. Ait-El-Mkadem, +9 authors V. Paquis-Flucklinger Biology, Medicine European Journal of Human Genetics 2013 80 PDF Save Alert Research Feed Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency Heng Wang, A. Bright, B. Xin, J. R. Bockoven, A. Paller Biology, Medicine American journal of medical genetics. Part A 2013 30 Save Alert Research Feed West syndrome caused by ST3Gal‐III deficiency S. Edvardson, Anna-Maria T. Baumann, +8 authors O. Elpeleg Biology, Medicine Epilepsia 2013 50 Save Alert Research Feed Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects. K. Sheikh, J. Sun, +5 authors R. Schnaar Biology, Medicine Proceedings of the National Academy of Sciences of the United States of America 1999 359 PDF Save Alert Research Feed Effect of Ganglioside GM3 Synthase Gene Knockout on the Glycoprotein N‐Glycan Profile of Mouse Embryonic Fibroblast N. Nagahori, T. Yamashita, M. Amano, S. Nishimura Biology, Medicine Chembiochem : a European journal of chemical biology 2013 13 Save Alert Research Feed Mice lacking ganglioside GM3 synthase exhibit complete hearing loss due to selective degeneration of the organ of Corti Misato Yoshikawa, Shinji Go, +15 authors J. Inokuchi Biology, Medicine Proceedings of the National Academy of Sciences 2009 101 PDF Save Alert Research Feed Alteration of ganglioside synthesis by GM3 synthase knockout in murine embryonic fibroblasts. N. A. Shevchuk, Y. Hathout, +4 authors S. Ladisch Biology, Medicine Biochimica et biophysica acta 2007 23 Save Alert Research Feed ... 1 2 3 4 5 ... Related Papers Abstract Figures, Tables, and Topics 102 Citations 79 References Related Papers Stay Connected With Semantic Scholar Sign Up About Semantic Scholar Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. 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