serine has been researched along with Microcephaly in 31 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.
Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures." | 5.30 | Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. ( Berger, R; Blau, N; de Koning, TJ; Dorland, L; Duran, M; Gooskens, R; Jaeken, J; Poll-The, BT; Van Schaftingen, E, 1998) |
| "A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult." | 4.02 | Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. ( Brown, LH; Cowen, EW; Debs, S; Ferreira, CR; Gahl, WA; Groden, C; Kim, HJ; King, KA; King, MC; Lehky, T; Macnamara, E; Merideth, M; Owen, CM; Soldatos, A; Toro, C, 2021) |
| "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) |
| "We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency (Patient 1) and phosphoserine aminotransferase (PSAT1) deficiency (Patient 2), presenting with congenital microcephaly (<3rd centile at birth) and encephalopathy with spasticity." | 3.83 | Two new cases of serine deficiency disorders treated with l-serine. ( Bahi-Buisson, N; Boddaert, N; Brassier, A; de Lonlay, P; Desguerre, I; Habarou, F; Hubert, L; Kaminska, A; Ottolenghi, C; Valayannopoulos, V; Van Schaftingen, E; Wiame, E, 2016) |
| "Congenital microcephaly, intractable seizures and severe psychomotor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis." | 3.71 | Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids. ( De Koning, TJ; Dorland, L; Duran, M; Gooskens, R; Jaeken, J; Pineda, M; Poll-The, BT; Van Maldergem, L, 2002) |
| "Serine concentrations were markedly decreased in the cerebrospinal fluid of two brothers with congenital microcephaly, profound psychomotor retardation, hypertonia, epilepsy, growth retardation, and hypogonadism." | 3.69 | 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. ( Carchon, H; Detheux, M; Foulon, M; Jaeken, J; Van Maldergem, L; Van Schaftingen, E, 1996) |
| "Its typical features are congenital microcephaly, epileptic seizures, and psychomotor developmental delay." | 3.01 | Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review. ( Chen, L; Fu, J; Liu, Y; Su, T; Xu, S, 2023) |
| "The observed constellation of microcephaly, deafness, cryptorchidism, developmental delay, hypertension, and bilateral pheochromocytoma in association with a VHL mutation A451G in a patient with negative family history has not previously been described in the literature." | 1.32 | Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. ( Assadi, F; Brackbill, EL, 2003) |
| "They presented with congenital microcephaly, severe psychomotor retardation and intractable seizures." | 1.31 | Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. ( de Koning, TJ; Jaeken, J; Pineda, M; Poll-The, BT; van der Knaap, MS; Van Maldergem, L, 2000) |
| "Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures." | 1.30 | Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. ( Berger, R; Blau, N; de Koning, TJ; Dorland, L; Duran, M; Gooskens, R; Jaeken, J; Poll-The, BT; Van Schaftingen, E, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 3 (9.68) | 18.2507 |
| 2000's | 3 (9.68) | 29.6817 |
| 2010's | 15 (48.39) | 24.3611 |
| 2020's | 10 (32.26) | 2.80 |
| Authors | Studies |
|---|---|
| Sarigecili, E | 1 |
| Bulut, FD | 1 |
| Anlas, O | 1 |
| Fu, J | 1 |
| Chen, L | 1 |
| Su, T | 1 |
| Xu, S | 1 |
| Liu, Y | 1 |
| Pujol-Giménez, J | 1 |
| Mirzaa, G | 1 |
| Blue, EE | 1 |
| Albano, G | 1 |
| Miller, DE | 1 |
| Allworth, A | 1 |
| Bennett, JT | 1 |
| Byers, PH | 1 |
| Chanprasert, S | 1 |
| Chen, J | 1 |
| Doherty, D | 1 |
| Folta, AB | 1 |
| Gillentine, MA | 1 |
| Glass, I | 1 |
| Hing, A | 1 |
| Horike-Pyne, M | 1 |
| Leppig, KA | 1 |
| Parhin, A | 1 |
| Ranchalis, J | 1 |
| Raskind, WH | 1 |
| Rosenthal, EA | 1 |
| Schwarze, U | 1 |
| Sheppeard, S | 1 |
| Strohbehn, S | 1 |
| Sybert, VP | 1 |
| Timms, A | 1 |
| Wener, M | 1 |
| Bamshad, MJ | 1 |
| Hisama, FM | 1 |
| Jarvik, GP | 1 |
| Dipple, KM | 1 |
| Hediger, MA | 2 |
| Stergachis, AB | 1 |
| Ratz-Mitchem, ML | 1 |
| Leary, G | 1 |
| Grindeland, A | 1 |
| Silvius, D | 1 |
| Guter, J | 1 |
| Kavanaugh, MP | 1 |
| Gunn, TM | 1 |
| Cuinat, S | 1 |
| Quélin, C | 1 |
| Pasquier, L | 1 |
| Loget, P | 1 |
| Aussel, D | 1 |
| Odent, S | 1 |
| Laquerrière, A | 1 |
| Proisy, M | 1 |
| Mazoyer, S | 1 |
| Delous, M | 1 |
| Edery, P | 1 |
| Chatron, N | 1 |
| Lesca, G | 1 |
| Putoux, A | 1 |
| Xie, MJ | 1 |
| Cromie, GA | 2 |
| Owens, K | 1 |
| Timour, MS | 1 |
| Tang, M | 1 |
| Kutz, JN | 1 |
| El-Hattab, AW | 5 |
| 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 |
| Ali, A | 1 |
| Dhahouri, NA | 1 |
| Almesmari, FSA | 1 |
| Fathalla, WM | 1 |
| Jasmi, FA | 1 |
| Debs, S | 1 |
| Ferreira, CR | 1 |
| Groden, C | 1 |
| Kim, HJ | 1 |
| King, KA | 1 |
| King, MC | 1 |
| Lehky, T | 1 |
| Cowen, EW | 1 |
| Brown, LH | 1 |
| Merideth, M | 1 |
| Owen, CM | 1 |
| Macnamara, E | 1 |
| Toro, C | 1 |
| Gahl, WA | 1 |
| Soldatos, A | 1 |
| de Koning, TJ | 6 |
| Yuan, L | 1 |
| Huang, XY | 1 |
| Liu, ZY | 1 |
| Zhang, F | 1 |
| Zhu, XL | 1 |
| Yu, JY | 1 |
| Ji, X | 1 |
| Xu, YP | 1 |
| Li, G | 1 |
| Li, C | 1 |
| Wang, HJ | 1 |
| Deng, YQ | 1 |
| Wu, M | 1 |
| Cheng, ML | 1 |
| Ye, Q | 1 |
| Xie, DY | 1 |
| Li, XF | 1 |
| Wang, X | 1 |
| Shi, W | 1 |
| Hu, B | 1 |
| Shi, PY | 1 |
| Xu, Z | 1 |
| Qin, CF | 1 |
| Glinton, KE | 1 |
| Benke, PJ | 2 |
| Lines, MA | 1 |
| Geraghty, MT | 1 |
| Chakraborty, P | 1 |
| Al-Dirbashi, OY | 1 |
| Jiang, Y | 1 |
| Kennedy, AD | 1 |
| Grotewiel, MS | 1 |
| Sutton, VR | 1 |
| Elsea, SH | 1 |
| Vandekeere, S | 1 |
| Dubois, C | 1 |
| Kalucka, J | 1 |
| Sullivan, MR | 1 |
| García-Caballero, M | 1 |
| Goveia, J | 1 |
| Chen, R | 1 |
| Diehl, FF | 1 |
| Bar-Lev, L | 1 |
| Souffreau, J | 1 |
| Pircher, A | 1 |
| Kumar, S | 1 |
| Vinckier, S | 1 |
| Hirabayashi, Y | 1 |
| Furuya, S | 2 |
| Schoonjans, L | 1 |
| Eelen, G | 1 |
| Ghesquière, B | 1 |
| Keshet, E | 1 |
| Li, X | 1 |
| Vander Heiden, MG | 1 |
| Dewerchin, M | 1 |
| Carmeliet, P | 1 |
| Kaplan, E | 1 |
| Zubedat, S | 1 |
| Radzishevsky, I | 1 |
| Valenta, AC | 1 |
| Rechnitz, O | 1 |
| Sason, H | 1 |
| Sajrawi, C | 1 |
| Bodner, O | 1 |
| Konno, K | 1 |
| Esaki, K | 2 |
| Derdikman, D | 1 |
| Yoshikawa, T | 1 |
| Watanabe, M | 1 |
| Kennedy, RT | 1 |
| Billard, JM | 1 |
| Avital, A | 1 |
| Wolosker, H | 1 |
| van der Crabben, SN | 1 |
| Verhoeven-Duif, NM | 1 |
| Brilstra, EH | 1 |
| Van Maldergem, L | 4 |
| Coskun, T | 1 |
| Rubio-Gozalbo, E | 1 |
| Berger, R | 2 |
| Kraoua, I | 1 |
| Wiame, E | 2 |
| Kraoua, L | 1 |
| Nasrallah, F | 1 |
| Benrhouma, H | 1 |
| Rouissi, A | 1 |
| Turki, I | 1 |
| Chaabouni, H | 1 |
| Briand, G | 1 |
| Kaabachi, N | 1 |
| Van Schaftingen, E | 4 |
| Gouider-Khouja, N | 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 |
| Sayano, T | 1 |
| 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 |
| Damseh, N | 1 |
| Simonin, A | 1 |
| Jalas, C | 1 |
| Picoraro, JA | 1 |
| Shaag, A | 1 |
| Cho, MT | 1 |
| Yaacov, B | 1 |
| Neidich, J | 1 |
| Al-Ashhab, M | 1 |
| Juusola, J | 1 |
| Bale, S | 1 |
| Telegrafi, A | 1 |
| Retterer, K | 1 |
| Pappas, JG | 1 |
| Moran, E | 1 |
| Cappell, J | 1 |
| Anyane Yeboa, K | 1 |
| Abu-Libdeh, B | 1 |
| Chung, WK | 1 |
| Elpeleg, O | 1 |
| Edvardson, S | 1 |
| Brassier, A | 1 |
| Valayannopoulos, V | 1 |
| Bahi-Buisson, N | 1 |
| Hubert, L | 1 |
| Boddaert, N | 1 |
| Kaminska, A | 1 |
| Habarou, F | 1 |
| Desguerre, I | 1 |
| Ottolenghi, C | 1 |
| de Lonlay, P | 1 |
| Hertecant, J | 1 |
| Galadari, HI | 1 |
| Albaqawi, BS | 1 |
| Nabil, A | 1 |
| Hidalgo, RJ | 1 |
| Braffman, BH | 1 |
| Jans, J | 1 |
| Gassen, KLIV | 1 |
| Sunbul, R | 1 |
| Duran, M | 2 |
| Pineda, M | 2 |
| Dorland, L | 2 |
| Gooskens, R | 2 |
| Jaeken, J | 5 |
| Poll-The, BT | 4 |
| Assadi, F | 1 |
| Brackbill, EL | 1 |
| Detheux, M | 1 |
| Foulon, M | 1 |
| Carchon, H | 1 |
| Blau, N | 1 |
| van der Knaap, MS | 1 |
6 reviews available for serine and Microcephaly
| Article | Year |
|---|---|
Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review.
Topics: Humans; Microcephaly; Mutation; Phenotype; Phosphoglycerate Dehydrogenase; Seizures; Serine | 2023 |
Amino acid synthesis deficiencies.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Asparagine; Bra | 2017 |
3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Intellectual Disability; Mal | 2013 |
[Essentiality of de novo L-serine synthesis for embryonic development and higher functions].
Topics: Animals; Brain; Carbohydrate Metabolism, Inborn Errors; Embryo, Mammalian; Gene Expression Regulatio | 2014 |
Serine biosynthesis and transport defects.
Topics: Abnormalities, Multiple; Amino Acid Transport System ASC; Brain Diseases; Child; Fetal Growth Retard | 2016 |
Continuing education in neurometabolic disorders--serine deficiency disorders.
Topics: Adolescent; Amino Acids; Child; Deficiency Diseases; Female; Glycine; Humans; Ichthyosis; Male; Meta | 1999 |
25 other studies available for serine and Microcephaly
| Article | Year |
|---|---|
A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation.
Topics: Amino Acid Transport System ASC; Corpus Callosum; Drug Resistant Epilepsy; Humans; Microcephaly; Mut | 2022 |
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Topics: Amino Acid Transport System ASC; Child; Epilepsy; Epileptic Syndromes; Heterozygote; Humans; Microce | 2023 |
Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM).
Topics: Animals; Brain; Corpus Callosum; Humans; Mice; Microcephaly; Quadriplegia; Serine | 2023 |
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
Topics: Dwarfism; Female; Fetal Growth Retardation; Fetus; Humans; Microcephaly; Serine | 2023 |
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 |
Characterization of
Topics: Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Electron-Transferring Flavoproteins; Femal | 2021 |
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Topics: Adult; Child, Preschool; Congenital Abnormalities; Exome Sequencing; Female; Fetal Growth Retardatio | 2021 |
A single mutation in the prM protein of Zika virus contributes to fetal microcephaly.
Topics: Americas; Amino Acid Substitution; Animals; Asparagine; Cell Line, Tumor; Cricetinae; Disease Outbre | 2017 |
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.
Topics: Carbohydrate Metabolism, Inborn Errors; Cell Differentiation; Child; Child, Preschool; Dietary Suppl | 2018 |
Serine Synthesis via PHGDH Is Essential for Heme Production in Endothelial Cells.
Topics: Apoptosis; Carbohydrate Metabolism, Inborn Errors; Cell Line, Tumor; Cell Proliferation; Cell Surviv | 2018 |
ASCT1 (Slc1a4) transporter is a physiologic regulator of brain d-serine and neurodevelopment.
Topics: Amino Acid Transport System ASC; Animals; Astrocytes; Brain; Cell Communication; Disease Models, Ani | 2018 |
An update on serine deficiency disorders.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; In | 2013 |
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 |
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
Topics: Adolescent; Amino Acid Transport System ASC; Biological Transport; Child; Child, Preschool; Developm | 2015 |
Two new cases of serine deficiency disorders treated with l-serine.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Ch | 2016 |
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 |
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.
Topics: Carbohydrate Dehydrogenases; Child; Child, Preschool; Female; Glycine; Humans; Infant; Male; Microce | 2002 |
Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.
Topics: Adrenal Gland Neoplasms; Amino Acid Substitution; Child; Cryptorchidism; Developmental Disabilities; | 2003 |
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Dehydrogenases; Fibroblasts; Glycine; Humans; Inf | 1996 |
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.
Topics: Carbohydrate Dehydrogenases; Child; Child, Preschool; Drug Therapy, Combination; Electroencephalogra | 1998 |
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.
Topics: Amino Acids; Carbohydrate Dehydrogenases; Cerebral Cortex; Child; Child, Preschool; Choline; Demyeli | 2000 |