On the phenotypic spectrum of serine biosynthesis defects (Q38767340)

6 September 2017

title

On the phenotypic spectrum of serine biosynthesis defects (English)

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6 September 2017

7

Fowzan S Alkuraya

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6 September 2017

2

Ranad Shaheen

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6 September 2017

1

Ayman W El-Hattab

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6 September 2017

Jozef Hertecant

3

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6 September 2017

Hassan I Galadari

series ordinal

4

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6 September 2017

Badi S Albaqawi

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5

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6 September 2017

Amira Nabil

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6

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6 September 2017

publication date

10 March 2016

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Journal of Inherited Metabolic Disease

6 September 2017

published in

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6 September 2017

volume

39

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6 September 2017

issue

3

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6 September 2017

page(s)

373-381

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Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

6 September 2017

cites work

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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

21 January 2018

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Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

21 January 2018

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Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

21 January 2018

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Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids

21 January 2018

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Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

21 January 2018

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Novel neuroglial and glioglial relationships mediated by L-serine metabolism

21 January 2018

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L-serine and glycine serve as major astroglia-derived trophic factors for cerebellar Purkinje neurons

21 January 2018

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Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway

21 January 2018

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Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings

21 January 2018

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SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum

21 January 2018

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Abnormal Epidermal Keratinization in the repeated epilation mutant mouse

21 January 2018

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Epidermal sphingolipids: metabolism, function, and roles in skin disorders

21 January 2018

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

21 January 2018

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Phosphoserine phosphatase deficiency in a patient with Williams syndrome

21 January 2018

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Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature

21 January 2018

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A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

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Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis

21 January 2018

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Serine, but not glycine, supports one-carbon metabolism and proliferation of cancer cells.

21 January 2018

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The epidermal barrier function is dependent on the serine protease CAP1/Prss8

21 January 2018

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Loss of proteolytically processed filaggrin caused by epidermal deletion of Matriptase/MT-SP1.

21 January 2018

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Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.

21 January 2018

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Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

21 January 2018

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A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy

21 January 2018

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SIFT: Predicting amino acid changes that affect protein function

21 January 2018

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Cerebral abnormalities in the Neu-Laxova syndrome

21 January 2018

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3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

21 January 2018

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Functional genomics reveal that the serine synthesis pathway is essential in breast cancer

21 January 2018

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Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

21 January 2018

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Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations

21 January 2018

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

21 January 2018

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A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

21 January 2018

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Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

21 January 2018

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Expanding the clinical spectrum of 3‐phosphoglycerate dehydrogenase deficiency

21 January 2018

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Contribution of serine, folate and glycine metabolism to the ATP, NADPH and purine requirements of cancer cells

21 January 2018

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An update on serine deficiency disorders

21 January 2018

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Mutations responsible for 3-phosphoserine phosphatase deficiency

21 January 2018

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Overexpression of phosphoserine aminotransferase PSAT1 stimulates cell growth and increases chemoresistance of colon cancer cells

21 January 2018

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Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan

21 January 2018

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Targeted disruption of the mouse 3-phosphoglycerate dehydrogenase gene causes severe neurodevelopmental defects and results in embryonic lethality

21 January 2018

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Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome

21 January 2018

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12 December 2020

3-Phosphoglycerate dehydrogenase, a key enzyme for l-serine biosynthesis, is preferentially expressed in the radial glia/astrocyte lineage and olfactory ensheathing glia in the mouse brain

1 reference

12 December 2020

A further example of a lethal autosomal recessive condition in sibs

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12 December 2020

What syndrome is this? Neu-Laxova syndrome

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12 December 2020

Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?

1 reference

12 December 2020

A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings

1 reference

12 December 2020

10.1007/S10545-016-9921-5

Identifiers

DOI

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Dimensions Publication ID

6 September 2017

1024863082

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