Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family

Deficient Import of Acetyl-CoA into the ER Lumen Causes Neurodegeneration and Propensity to Infections, Inflammation, and Cancer

(2014) Y. Peng et al.   JOURNAL OF NEUROSCIENCE

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

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

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish

(2012) Y. Song et al.   Disease Models & Mechanisms

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

(2012) Peter Huppke et al.   HUMAN MUTATION

Erratum: Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2011) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

The BMP signaling pathway at the Drosophila neuromuscular junction and its links to neurodegenerative diseases

(2010) Vafa Bayat et al.   CURRENT OPINION IN NEUROBIOLOGY

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

Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia

(2010) Fang Du et al.   HUMAN MOLECULAR 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

Early defect of transforming growth factor β1 formation in Huntington’s disease

(2010) Giuseppe Battaglia et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway

(2010) Coralie Fassier et al.   NATURE NEUROSCIENCE

Drosophila Atlastin regulates the stability of muscle microtubules and is required for synapse development

(2009) Mihye Lee et al.   DEVELOPMENTAL BIOLOGY

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

(2009) Hilda T.H. Tsang et al.   HUMAN MOLECULAR GENETICS

Phosphorylated Smad2/3 immunoreactivity in sporadic and familial amyotrophic lateral sclerosis and its mouse model

(2008) Masataka Nakamura et al.   ACTA NEUROPATHOLOGICA

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

BMP inhibition enhances axonal growth and functional recovery after spinal cord injury

(2008) Iichiro Matsuura et al.   JOURNAL OF NEUROCHEMISTRY

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

A Drosophila Model of ALS: Human ALS-Associated Mutation in VAP33A Suggests a Dominant Negative Mechanism

(2008) Anuradha Ratnaparkhi et al.   PLoS One

Modeling Spinal Muscular Atrophy in Drosophila

(2008) Howard Chia-Hao Chang et al.   PLoS One