Literature DB >> 8739971

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.

J Jaeken1, M Detheux, L Van Maldergem, J P Frijns, P Alliet, M Foulon, H Carchon, E Van Schaftingen.   

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Year:  1996        PMID： 8739971     DOI： 10.1007/bf01799435

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

1.  Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2.

Authors:  G Novelli; B Dallapiccola
Journal:  Ann Genet       Date:  1988

2.  3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

Authors:  J Jaeken; M Detheux; L Van Maldergem; M Foulon; H Carchon; E Van Schaftingen
Journal:  Arch Dis Child       Date:  1996-06       Impact factor: 3.791

3.  Enzymes of serine metabolism in normal, developing and neoplastic rat tissues.

Authors:  K Snell
Journal:  Adv Enzyme Regul       Date:  1984

4.  Assignment of the human phosphoserine phosphatase gene (PSP) to the pter leads to q22 region of chromosome 7.

Authors:  G A Koch; R L Eddy; L L Haley; M G Byers; M McAvoy; T B Shows
Journal:  Cytogenet Cell Genet       Date:  1983

5.  Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

Authors:  A K Ewart; C A Morris; D Atkinson; W Jin; K Sternes; P Spallone; A D Stock; M Leppert; M T Keating
Journal:  Nat Genet       Date:  1993-09       Impact factor: 38.330

6.  Kinetics of neutral amino acid transport across the blood-brain barrier.

Authors:  Q R Smith; S Momma; M Aoyagi; S I Rapoport
Journal:  J Neurochem       Date:  1987-11       Impact factor: 5.372
  6 in total
  12 in total

1.  Glycolytic flux controls D-serine synthesis through glyceraldehyde-3-phosphate dehydrogenase in astrocytes.

Authors:  Masataka Suzuki; Jumpei Sasabe; Yurika Miyoshi; Kanako Kuwasako; Yutaka Muto; Kenji Hamase; Masaaki Matsuoka; Nobuaki Imanishi; Sadakazu Aiso
Journal:  Proc Natl Acad Sci U S A       Date:  2015-04-13       Impact factor: 11.205

Review 2.  Serine and one-carbon metabolism in cancer.

Authors:  Ming Yang; Karen H Vousden
Journal:  Nat Rev Cancer       Date:  2016-09-16       Impact factor: 60.716

Review 3.  L-Serine: a Naturally-Occurring Amino Acid with Therapeutic Potential.

Authors:  J S Metcalf; R A Dunlop; J T Powell; S A Banack; P A Cox
Journal:  Neurotox Res       Date:  2017-09-19       Impact factor: 3.911

Review 4.  L-serine in disease and development.

Authors:  Tom J de Koning; Keith Snell; Marinus Duran; Ruud Berger; Bwee-Tien Poll-The; Robert Surtees
Journal:  Biochem J       Date:  2003-05-01       Impact factor: 3.857

5.  One-methyl group metabolism in non-ketotic hyperglycinaemia: mildly elevated cerebrospinal fluid homocysteine levels.

Authors:  J L Van Hove; F Lazeyras; S H Zeisel; T Bottiglieri; K Hyland; H C Charles; L Gray; J Jaeken; S G Kahler
Journal:  J Inherit Metab Dis       Date:  1998-12       Impact factor: 4.982

6.  An update on serine deficiency disorders.

Authors:  S N van der Crabben; N M Verhoeven-Duif; E H Brilstra; L Van Maldergem; T Coskun; E Rubio-Gozalbo; R Berger; T J de Koning
Journal:  J Inherit Metab Dis       Date:  2013-03-06       Impact factor: 4.982

7.  Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.

Authors:  Heather M Byers; Robin L Bennett; Emily A Malouf; Michael D Weiss; Jie Feng; C Ronald Scott; Suman Jayadev
Journal:  JIMD Rep       Date:  2015-11-21

Review 8.  Hypomyelinating leukodystrophies - unravelling myelin biology.

Authors:  Nicole I Wolf; Charles Ffrench-Constant; Marjo S van der Knaap
Journal:  Nat Rev Neurol       Date:  2020-12-15       Impact factor: 42.937

Review 9.  Amino acid synthesis deficiencies.

Authors:  T J de Koning
Journal:  J Inherit Metab Dis       Date:  2017-06-26       Impact factor: 4.982

10.  A Novel Assay for Phosphoserine Phosphatase Exploiting Serine Acetyltransferase as the Coupling Enzyme.

Authors:  Francesco Marchesani; Erika Zangelmi; Stefano Bruno; Stefano Bettati; Alessio Peracchi; Barbara Campanini
Journal:  Life (Basel)       Date:  2021-05-26
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