Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1

Wilson's disease and other neurological copper disorders

(2015) Oliver Bandmann et al.   LANCET NEUROLOGY

The acetyl-CoA transporter family SLC33

(2013) Yoshio Hirabayashi et al.   MOLECULAR ASPECTS OF MEDICINE

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

(2012) Peter Huppke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SLC33A1/AT-1 Protein Regulates the Induction of Autophagy Downstream of IRE1/XBP1 Pathway

(2012) Mariana Pehar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

(2010) Nina A Schlipf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability

(2010) M. C. Jonas et al.   JOURNAL OF CELL SCIENCE

A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)

(2008) Pengfei Lin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms for copper acquisition, distribution and regulation

(2008) Byung-Eun Kim et al.   Nature Chemical Biology