Mutations inSLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

(2014) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An update on serine deficiency disorders

(2013) S. N. van der Crabben et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The SLC1 high-affinity glutamate and neutral amino acid transporter family

(2013) Yoshikatsu Kanai et al.   MOLECULAR ASPECTS OF MEDICINE

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

(2012) Simon Edvardson et al.   ANNALS OF NEUROLOGY

Nedd4-1 and β-Arrestin-1 Are Key Regulators of Na+/H+Exchanger 1 Ubiquitylation, Endocytosis, and Function

(2010) Alexandre Simonin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2009) L. Tabatabaie et al.   HUMAN MUTATION

l-Serine synthesis in the central nervous system: A review on serine deficiency disorders

(2009) L. Tabatabaie et al.   MOLECULAR GENETICS AND METABOLISM