Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE)-Reference-Cited by-同舟云学术

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Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE)

Published:2017-01 Issue:1 Volume:1863 Page:121-128
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Pena Izabella Agostinho,Marques Lygia Azevedo,Laranjeira Ângelo B.A.,Yunes José A.,Eberlin Marcos N.,MacKenzie Alex,Arruda Paulo

Funder

FAPESP

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference29 articles.

1. Mutations in antiquitin in individuals with pyridoxine-dependent seizures;Mills;Nat. Med.,2006

2. Pyridoxine-dependent and pyridoxine-responsive seizures;Baxter;Dev. Med. Child Neurol.,2001

3. Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy;Plecko;Neuropediatrics,2005

4. Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations;Mercimek-Mahmutoglu;Mol. Genet. Metab.,2013

5. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up;Stockler;Mol. Genet. Metab.,2011

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