Page last updated: 2024-08-24

hypusine and Developmental Disabilities

hypusine has been researched along with Developmental Disabilities in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	1 (50.00)	24.3611
2020's	1 (50.00)	2.80

Authors

Authors	Studies
Amiel, J; Banka, S; Crilly, S; Cross, LA; Cuvertino, S; Davies, SJ; Douglas, AGL; Faundes, V; Fry, AE; Gordon, CT; Granadillo, JL; Harrison, V; Jennings, MD; Kasher, PR; Legraie, S; Lehalle, D; Newkirk, P; Newman, WG; Pavitt, GD; Ranells, J; Saunders, CJ; Splitt, M; Sullivan, BR; Withers, SE	1
Au, PB; Chung, WK; Deng, L; Devinsky, O; Ganapathi, M; Hanner, A; Karlowicz, D; LeDuc, CA; Lee, J; Mastracci, TL; McDonald, M; Mirmira, RG; Okur, V; Padgett, LR; Park, MH; Person, R; Shen, Y; Tagoe, J; Wang, J; Willaert, R; Wolf, B; Yamada, K	1

Other Studies

2 other study(ies) available for hypusine and Developmental Disabilities

Article	Year
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine. Nature communications, 2021, 02-05, Volume: 12, Issue:1 Topics: Adolescent; Amino Acid Sequence; Animals; Child; Developmental Disabilities; Embryo, Nonmammalian; Eukaryotic Translation Initiation Factor 5A; Female; Gene Expression Regulation, Developmental; Humans; Lysine; Male; Microcephaly; Micrognathism; Peptide Initiation Factors; Peptides; Protein Biosynthesis; Protein Conformation; Protein Isoforms; Ribosomes; RNA-Binding Proteins; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Sequence Alignment; Sequence Homology, Amino Acid; Spermidine; Zebrafish; Zebrafish Proteins	2021
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. American journal of human genetics, 2019, 02-07, Volume: 104, Issue:2 Topics: Alleles; Amino Acid Sequence; Child; Child, Preschool; Developmental Disabilities; Eukaryotic Translation Initiation Factor 5A; Female; Genes, Recessive; Haplotypes; Humans; Lysine; Male; Metabolism, Inborn Errors; Mutation; Neurodevelopmental Disorders; Oxidoreductases Acting on CH-NH Group Donors; Pedigree; Peptide Initiation Factors; RNA-Binding Proteins; Seizures; Young Adult	2019

Article

Year

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Nature communications, 2021, 02-05, Volume: 12, Issue:1

Topics: Adolescent; Amino Acid Sequence; Animals; Child; Developmental Disabilities; Embryo, Nonmammalian; Eukaryotic Translation Initiation Factor 5A; Female; Gene Expression Regulation, Developmental; Humans; Lysine; Male; Microcephaly; Micrognathism; Peptide Initiation Factors; Peptides; Protein Biosynthesis; Protein Conformation; Protein Isoforms; Ribosomes; RNA-Binding Proteins; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Sequence Alignment; Sequence Homology, Amino Acid; Spermidine; Zebrafish; Zebrafish Proteins

2021

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

American journal of human genetics, 2019, 02-07, Volume: 104, Issue:2

Topics: Alleles; Amino Acid Sequence; Child; Child, Preschool; Developmental Disabilities; Eukaryotic Translation Initiation Factor 5A; Female; Genes, Recessive; Haplotypes; Humans; Lysine; Male; Metabolism, Inborn Errors; Mutation; Neurodevelopmental Disorders; Oxidoreductases Acting on CH-NH Group Donors; Pedigree; Peptide Initiation Factors; RNA-Binding Proteins; Seizures; Young Adult

2019