1 |
Marchesani F , Zangelmi E , Murtas G , Costanzi E , Ullah R , Peracchi A , Bruno S , Pollegioni L , Mozzarelli A , Storici P , Campanini B . L-serine biosynthesis in the human central nervous system: structure and function of phosphoserine aminotransferase. Protein Science, 2023, 32: e4609.
doi: 10.1002/pro.4609
|
2 |
Rabattoni V, Marchesani F, Murtas G, Sacchi S, Mozzarelli A, Bruno S, Peracchi A, Pollegioni L, Campanini B. The human phosphorylated pathway: a multienzyme metabolic assembly for L-serine biosynthesis[J]. FEBS J, 2023. [Epub ahead of print]
|
3 |
Murtas G , Marcone GL , Sacchi S , Pollegioni L . L-serine synthesis via the phosphorylated pathway in humans. Cell Mol Life Sci, 2020, 77: 5131- 5148.
doi: 10.1007/s00018-020-03574-z
|
4 |
Tabatabaie L , Klomp LW , Berger R , de Koning TJ . L-serine synthesis in the central nervous system: a review on serine deficiency disorders. Mol Genet Metab, 2010, 99: 256- 262.
doi: 10.1016/j.ymgme.2009.10.012
|
5 |
El-Hattab AW , Shaheen R , Hertecant J , Galadari HI , Albaqawi BS , Nabil A , Alkuraya FS . On the phenotypic spectrum of serine biosynthesis defects. J Inherit Metab Dis, 2016, 39: 373- 381.
doi: 10.1007/s10545-016-9921-5
|
6 |
El-Hattab AW . Serine biosynthesis and transport defects. Mol Genet Metab, 2016, 118: 153- 159.
doi: 10.1016/j.ymgme.2016.04.010
|
7 |
Glinton KE , Benke PJ , Lines MA , Geraghty MT , Chakraborty P , Al-Dirbashi OY , Jiang Y , Kennedy AD , Grotewiel MS , Sutton VR , Elsea SH , El-Hattab AW . Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Mol Genet Metab, 2018, 123: 309- 316.
doi: 10.1016/j.ymgme.2017.12.009
|
8 |
Penno A , Reilly MM , Houlden H , Laurá M , Rentsch K , Niederkofler V , Stoeckli ET , Nicholson G , Eichler F , Brown RH Jr , von Eckardstein A , Hornemann T . Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem, 2010, 285: 11178- 11187.
doi: 10.1074/jbc.M109.092973
|
9 |
Brassier A , Valayannopoulos V , Bahi-Buisson N , Wiame E , Hubert L , Boddaert N , Kaminska A , Habarou F , Desguerre I , Van Schaftingen E , Ottolenghi C , de Lonlay P . Two new cases of serine deficiency disorders treated with L-serine. Eur J Paediatr Neurol, 2016, 20: 53- 60.
|
10 |
Hart CE , Race V , Achouri Y , Wiame E , Sharrard M , Olpin SE , Watkinson J , Bonham JR , Jaeken J , Matthijs G , Van Schaftingen E . Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet, 2007, 80: 931- 937.
doi: 10.1086/517888
|
11 |
Ni C , Cheng RH , Zhang J , Liang JY , Wei RQ , Li M , Yao ZR . Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome. Eur J Dermatol, 2019, 29: 641- 646.
doi: 10.1684/ejd.2019.3673
|
12 |
Abdelfattah F , Kariminejad A , Kahlert AK , Morrison PJ , Gumus E , Mathews KD , Darbro BW , Amor DJ , Walsh M , Sznajer Y , Weiß L , Weidensee S , Chitayat D , Shannon P , Bermejo-Sánchez E , Riaño-Galán I , Hayes I , Poke G , Rooryck C , Pennamen P , Khung-Savatovsky S , Toutain A , Vuillaume ML , Ghaderi-Sohi S , Kariminejad MH , Weinert S , Sticht H , Zenker M , Schanze D . Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Hum Mutat, 2020, 41: 1615- 1628.
doi: 10.1002/humu.24067
|
13 |
Acuna-Hidalgo R , Schanze D , Kariminejad A , Nordgren A , Kariminejad MH , Conner P , Grigelioniene G , Nilsson D , Nordenskjöld M , Wedell A , Freyer C , Wredenberg A , Wieczorek D , Gillessen-Kaesbach G , Kayserili H , Elcioglu N , Ghaderi-Sohi S , Goodarzi P , Setayesh H , van de Vorst M , Steehouwer M , Pfundt R , Krabichler B , Curry C , MacKenzie MG , Boycott KM , Gilissen C , Janecke AR , Hoischen A , Zenker M . Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet, 2014, 95: 285- 293.
doi: 10.1016/j.ajhg.2014.07.012
|
14 |
Shapira Zaltsberg G , McMillan HJ , Miller E . Phosphoserine aminotransferase deficiency: imaging findings in a child with congenital microcephaly. J Matern Fetal Neonatal Med, 2020, 33: 1033- 1035.
doi: 10.1080/14767058.2018.1514375
|
15 |
Debs S , Ferreira CR , Groden C , Kim HJ , King KA , King MC , Lehky T , Cowen EW , Brown LH , Merideth M , Owen CM , Macnamara E , Toro C , Gahl WA , Soldatos A . Adult diagnosis of congenital serine biosynthesis defect: a treatable cause of progressive neuropathy. Am J Med Genet A, 2021, 185: 2102- 2107.
|
16 |
Shen Y , Peng Y , Huang P , Zheng Y , Li S , Jiang K , Zhou M , Deng J , Zhu M , Hong D . Juvenile-onset PSAT1-related neuropathy: a milder phenotype of serine deficiency disorder. Front Genet, 2022, 13: 949038.
doi: 10.3389/fgene.2022.949038
|
17 |
Lu Y , Xing H , Liu C , Huang D , Sun C , Yu M , Meng L , Lv H , Zhang W , Wang Z , Yuan Y , Xie Z . Pathogenic PSAT1 variants and autosomal recessive axonal Charcot-Marie-Tooth disease with ichthyosis. Pediatr Neurol, 2023, 140: 25- 34.
|
18 |
Heggar Venkataramana S , Puttaswamy N , Kodimule S . Potential benefits of oral administration of AMORPHOPHALLUS KONJAC glycosylceramides on skin health: a randomized clinical study. BMC Complement Med Ther, 2020, 20: 26.
|
19 |
Leyvraz C , Charles RP , Rubera I , Guitard M , Rotman S , Breiden B , Sandhoff K , Hummler E . The epidermal barrier function is dependent on the serine protease CAP1/Prss8. J Cell Biol, 2005, 170: 487- 496.
|
20 |
de Koning TJ , Klomp LW , van Oppen AC , Beemer FA , Dorland L , van den Berg I , Berger R . Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet, 2004, 364: 2221- 2222.
|