An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

Plasma Membrane Na+-Coupled Citrate Transporter (SLC13A5) and Neonatal Epileptic Encephalopathy

(2017) Yangzom Bhutia et al.   MOLECULES

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

(2016) Kyle Thompson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discoveries, metabolic roles and diseases of mitochondrial carriers: A review

(2016) Ferdinando Palmieri et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans

(2015) Hanan E. Shamseldin et al.   HUMAN GENETICS

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

(2015) Alexander J Abrams et al.   NATURE GENETICS

Citrate – new functions for an old metabolite

(2014) Vito Iacobazzi et al.   BIOLOGICAL CHEMISTRY

Mitochondrial transporters of the SLC25 family and associated diseases: a review

(2014) Ferdinando Palmieri   JOURNAL OF INHERITED METABOLIC DISEASE

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

(2014) Chris Mühlhausen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Structures of yeast mitochondrial ADP/ATP carriers support a domain-based alternating-access transport mechanism

(2014) J. J. Ruprecht et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

(2013) Benjamin Nota et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Single-nucleotide evolution quantifies the importance of each site along the structure of mitochondrial carriers

(2013) Ciro Leonardo Pierri et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations inSLC25A1encoding the mitochondrial citrate transporter

(2013) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Substrate Specificity of the Two Mitochondrial Ornithine Carriers Can Be Swapped by Single Mutation in Substrate Binding Site

(2012) Magnus Monné et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The mitochondrial transporter family SLC25: Identification, properties and physiopathology

(2012) Ferdinando Palmieri   MOLECULAR ASPECTS OF MEDICINE

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

(2012) Ofir T. Betsalel et al.   MOLECULAR GENETICS AND METABOLISM

Evolution, structure and function of mitochondrial carriers: a review with new insights

(2011) Ferdinando Palmieri et al.   PLANT JOURNAL

Mitochondrial metabolite transport

(2010) Ferdinando Palmieri et al.   Essays in Biochemistry

Citrate transport and metabolism in mammalian cells

(2009) Maria E. Mycielska et al.   BIOESSAYS

Structure and function of mitochondrial carriers - Role of the transmembrane helix P and G residues in the gating and transport mechanism

(2009) Ferdinando Palmieri et al.   FEBS LETTERS

α-Isopropylmalate, a Leucine Biosynthesis Intermediate in Yeast, Is Transported by the Mitochondrial Oxalacetate Carrier

(2008) Carlo M. T. Marobbio et al.   JOURNAL OF BIOLOGICAL CHEMISTRY