serine has been researched along with Brain Disorders in 21 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end." | 3.85 | Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. ( Benke, PJ; Braffman, BH; El-Hattab, AW; Gassen, KLIV; Hidalgo, RJ; Jans, J; Sunbul, R, 2017) |
| "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor function with ataxia, spasticity and mental decline." | 1.32 | A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. ( Araki, K; Arima, M; Ezoe, T; Hamaguchi, H; Hirayama, Y; Kanazawa, N; Nakayama, H; Saijo, H; Shiroma, N; Sone, S; Suzuki, H; Tsujino, S, 2003) |
| "Choline treatment did not change brain choline content, and was not associated with clinical or radiological improvement." | 1.30 | One-methyl group metabolism in non-ketotic hyperglycinaemia: mildly elevated cerebrospinal fluid homocysteine levels. ( Bottiglieri, T; Charles, HC; Gray, L; Hyland, K; Jaeken, J; Kahler, SG; Lazeyras, F; Van Hove, JL; Zeisel, SH, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (14.29) | 18.7374 |
| 1990's | 4 (19.05) | 18.2507 |
| 2000's | 3 (14.29) | 29.6817 |
| 2010's | 8 (38.10) | 24.3611 |
| 2020's | 3 (14.29) | 2.80 |
| Authors | Studies |
|---|---|
| Xie, MJ | 1 |
| Cromie, GA | 2 |
| Owens, K | 1 |
| Timour, MS | 1 |
| Tang, M | 1 |
| Kutz, JN | 1 |
| El-Hattab, AW | 4 |
| McLaughlin, RN | 1 |
| Dudley, AM | 2 |
| Sirr, A | 1 |
| Lo, RS | 1 |
| Scott, AC | 1 |
| Ashmead, J | 1 |
| Heyesus, M | 1 |
| Abdelfattah, F | 1 |
| Kariminejad, A | 2 |
| Kahlert, AK | 1 |
| Morrison, PJ | 1 |
| Gumus, E | 1 |
| Mathews, KD | 1 |
| Darbro, BW | 1 |
| Amor, DJ | 1 |
| Walsh, M | 1 |
| Sznajer, Y | 1 |
| Weiß, L | 1 |
| Weidensee, S | 1 |
| Chitayat, D | 1 |
| Shannon, P | 1 |
| Bermejo-Sánchez, E | 1 |
| Riaño-Galán, I | 1 |
| Hayes, I | 1 |
| Poke, G | 1 |
| Rooryck, C | 1 |
| Pennamen, P | 1 |
| Khung-Savatovsky, S | 1 |
| Toutain, A | 1 |
| Vuillaume, ML | 1 |
| Ghaderi-Sohi, S | 2 |
| Kariminejad, MH | 2 |
| Weinert, S | 1 |
| Sticht, H | 1 |
| Zenker, M | 2 |
| Schanze, D | 2 |
| de Koning, TJ | 1 |
| Ivanov, AD | 1 |
| Mothet, JP | 1 |
| Soto, D | 1 |
| Olivella, M | 1 |
| Grau, C | 1 |
| Armstrong, J | 1 |
| Alcon, C | 1 |
| Gasull, X | 1 |
| Santos-Gómez, A | 1 |
| Locubiche, S | 1 |
| Gómez de Salazar, M | 1 |
| García-Díaz, R | 1 |
| Gratacòs-Batlle, E | 1 |
| Ramos-Vicente, D | 1 |
| Chu-Van, E | 1 |
| Colsch, B | 1 |
| Fernández-Dueñas, V | 1 |
| Ciruela, F | 1 |
| Bayés, À | 1 |
| Sindreu, C | 1 |
| López-Sala, A | 1 |
| García-Cazorla, À | 1 |
| Altafaj, X | 1 |
| Shaheen, R | 2 |
| Rahbeeni, Z | 1 |
| Alhashem, A | 1 |
| Faqeih, E | 1 |
| Zhao, Q | 1 |
| Xiong, Y | 1 |
| Almoisheer, A | 1 |
| Al-Qattan, SM | 1 |
| Almadani, HA | 1 |
| Al-Onazi, N | 1 |
| Al-Baqawi, BS | 1 |
| Saleh, MA | 1 |
| Alkuraya, FS | 2 |
| Acuna-Hidalgo, R | 1 |
| Nordgren, A | 1 |
| Conner, P | 1 |
| Grigelioniene, G | 1 |
| Nilsson, D | 1 |
| Nordenskjöld, M | 1 |
| Wedell, A | 1 |
| Freyer, C | 1 |
| Wredenberg, A | 1 |
| Wieczorek, D | 1 |
| Gillessen-Kaesbach, G | 1 |
| Kayserili, H | 1 |
| Elcioglu, N | 1 |
| Goodarzi, P | 1 |
| Setayesh, H | 1 |
| van de Vorst, M | 1 |
| Steehouwer, M | 1 |
| Pfundt, R | 1 |
| Krabichler, B | 1 |
| Curry, C | 1 |
| MacKenzie, MG | 1 |
| Boycott, KM | 1 |
| Gilissen, C | 1 |
| Janecke, AR | 1 |
| Hoischen, A | 1 |
| Hertecant, J | 1 |
| Galadari, HI | 1 |
| Albaqawi, BS | 1 |
| Nabil, A | 1 |
| Benke, PJ | 1 |
| Hidalgo, RJ | 1 |
| Braffman, BH | 1 |
| Jans, J | 1 |
| Gassen, KLIV | 1 |
| Sunbul, R | 1 |
| Saijo, H | 1 |
| Nakayama, H | 1 |
| Ezoe, T | 1 |
| Araki, K | 1 |
| Sone, S | 1 |
| Hamaguchi, H | 1 |
| Suzuki, H | 1 |
| Shiroma, N | 1 |
| Kanazawa, N | 1 |
| Tsujino, S | 2 |
| Hirayama, Y | 1 |
| Arima, M | 1 |
| Morita, H | 1 |
| Imamura, A | 1 |
| Matsuo, N | 1 |
| Tatebayashi, K | 1 |
| Omoya, K | 1 |
| Takahashi, Y | 1 |
| Billard, JM | 1 |
| Lehmann, JC | 1 |
| Procureur, D | 1 |
| Wood, PL | 1 |
| Boatell, ML | 1 |
| Bendahan, G | 1 |
| Mahy, N | 1 |
| Jaeken, J | 2 |
| Detheux, M | 1 |
| Van Maldergem, L | 1 |
| Frijns, JP | 1 |
| Alliet, P | 1 |
| Foulon, M | 1 |
| Carchon, H | 1 |
| Van Schaftingen, E | 1 |
| Van Hove, JL | 1 |
| Lazeyras, F | 1 |
| Zeisel, SH | 1 |
| Bottiglieri, T | 1 |
| Hyland, K | 1 |
| Charles, HC | 1 |
| Gray, L | 1 |
| Kahler, SG | 1 |
| Usui, S | 1 |
| Komiya, T | 1 |
| Imai, H | 1 |
| Narabayashi, H | 1 |
| Suzuki, T | 1 |
| Sakoda, S | 1 |
| Ueji, M | 1 |
| Kishimoto, S | 1 |
| Berge, T | 1 |
| Borgfors, N | 1 |
| Brun, A | 1 |
| von Studnitz, W | 1 |
4 reviews available for serine and Brain Disorders
| Article | Year |
|---|---|
Amino acid synthesis deficiencies.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Asparagine; Bra | 2017 |
The plastic d-serine signaling pathway: Sliding from neurons to glia and vice-versa.
Topics: Animals; Astrocytes; Brain Diseases; Humans; Neuroglia; Neurons; Receptors, N-Methyl-D-Aspartate; Se | 2019 |
Serine biosynthesis and transport defects.
Topics: Abnormalities, Multiple; Amino Acid Transport System ASC; Brain Diseases; Child; Fetal Growth Retard | 2016 |
D-serine signalling as a prominent determinant of neuronal-glial dialogue in the healthy and diseased brain.
Topics: Aging; Animals; Brain; Brain Diseases; Humans; Models, Neurological; Neuroglia; Neurons; Serine; Sig | 2008 |
17 other studies available for serine and Brain Disorders
| Article | Year |
|---|---|
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
Topics: Brain Diseases; Child; Genotype; Humans; Microcephaly; Saccharomyces cerevisiae; Serine | 2023 |
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.
Topics: Abnormalities, Multiple; Brain Diseases; Fetal Growth Retardation; Humans; Ichthyosis; Limb Deformit | 2020 |
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Topics: Abnormalities, Multiple; Brain Diseases; Female; Fetal Growth Retardation; Fetus; Genetic Associatio | 2020 |
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function
Topics: Animals; Brain Diseases; Child; Cognition; Dietary Supplements; Humans; Loss of Function Mutation; M | 2019 |
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
Topics: Abnormalities, Multiple; Alleles; Amino Acid Sequence; Animals; Brain Diseases; Carbohydrate Metabol | 2014 |
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Topics: Abnormalities, Multiple; Amino Acid Sequence; Brain Diseases; Consanguinity; Family; Female; Fetal G | 2014 |
On the phenotypic spectrum of serine biosynthesis defects.
Topics: Abnormalities, Multiple; Brain Diseases; Fetal Growth Retardation; Humans; Ichthyosis; Infant; Infan | 2016 |
Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.
Topics: Abnormalities, Multiple; Adolescent; Brain Diseases; Carbohydrate Metabolism, Inborn Errors; Child, | 2017 |
A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study.
Topics: Adult; Brain Diseases; Central Nervous System Cysts; Cerebrovascular Disorders; Dementia, Vascular; | 2003 |
MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease.
Topics: Adult; Brain Diseases; Cysts; Dementia, Vascular; Humans; Leucine; Leukoencephalopathy, Progressive | 2006 |
7-Chlorokynurenate prevents NMDA-induced and kainate-induced striatal lesions.
Topics: alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid; Animals; Brain Diseases; Choline O-Acetylt | 1993 |
Time-related cortical amino acid changes after basal forebrain lesion: a microdialysis study.
Topics: Alzheimer Disease; Amino Acids; Animals; Brain Diseases; Cerebral Cortex; Chromatography, High Press | 1995 |
3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Carbohydrate Dehydrogenases; Child; Chromosome | 1996 |
One-methyl group metabolism in non-ketotic hyperglycinaemia: mildly elevated cerebrospinal fluid homocysteine levels.
Topics: Amino Acid Metabolism, Inborn Errors; Benzoic Acid; Brain Diseases; Choline; Coma; Female; Glycine; | 1998 |
[Metrizamide encephalopathy in a child with hydrocephalus--effects of L-threo-DOPS on persistent disturbance of consciousness and L-dopa on extrapyramidal symptoms].
Topics: Basal Ganglia Diseases; Brain; Brain Diseases; Child; Cognition Disorders; Consciousness Disorders; | 1988 |
Mass spectrometric measurements of norepinephrine synthesis in man from infusion of stable isotope-labelled L-threo-3,4-dihydroxyphenylserine.
Topics: Atrophy; Brain Diseases; Cerebellum; Droxidopa; Gas Chromatography-Mass Spectrometry; Humans; Hypote | 1985 |
Encephalopathy in combination with a new pattern of aminoaciduria.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases; Central Nervous System; Chroma | 1969 |