Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

ER structure and function

(2013) Shuliang Chen et al.   CURRENT OPINION IN CELL BIOLOGY

The molecular hug between the ER and the mitochondria

(2013) Benoît Kornmann   CURRENT OPINION IN CELL BIOLOGY

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

(2013) Christian Beetz et al.   JOURNAL OF CLINICAL INVESTIGATION

Defective Axonal Transport of Rab7 GTPase Results in Dysregulated Trophic Signaling

(2013) K. Zhang et al.   JOURNAL OF NEUROSCIENCE

Endoplasmic reticulum–endosome contact increases as endosomes traffic and mature

(2013) Jonathan R. Friedman et al.   MOLECULAR BIOLOGY OF THE CELL

Autophagosomes form at ER–mitochondria contact sites

(2013) Maho Hamasaki et al.   NATURE

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

(2013) Enrico Leipold et al.   NATURE GENETICS

A Conserved Role for Atlastin GTPases in Regulating Lipid Droplet Size

(2013) Robin W. Klemm et al.   Cell Reports

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

(2013) Verena Heinrich et al.   Genome Medicine

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

(2012) Christian Beetz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

(2012) T. Kamphans et al.   BIOINFORMATICS

Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

(2012) Vincent Timmerman et al.   EXPERIMENTAL NEUROLOGY

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

(2012) Gladys Montenegro et al.   JOURNAL OF CLINICAL INVESTIGATION

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

(2012) G. L. Davidson et al.   JOURNAL OF NEUROLOGY

An anatomically comprehensive atlas of the adult human brain transcriptome

(2012) Michael J. Hawrylycz et al.   NATURE

ER network formation requires a balance of the dynamin-like GTPase Sey1p and the Lunapark family member Lnp1p

(2012) Shuliang Chen et al.   NATURE CELL BIOLOGY

Mechanisms of disease in hereditary sensory and autonomic neuropathies

(2012) Annelies Rotthier et al.   Nature Reviews Neurology

Lipid interaction of the C terminus and association of the transmembrane segments facilitate atlastin-mediated homotypic endoplasmic reticulum fusion

(2012) T. Y. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Role of Atg Proteins in Autophagosome Formation

(2011) Noboru Mizushima et al.   Annual Review of Cell and Developmental Biology

Weaving the Web of ER Tubules

(2011) Junjie Hu et al.   CELL

Balancing ER dynamics: shaping, bending, severing, and mending membranes

(2011) Diana Pendin et al.   CURRENT OPINION IN CELL BIOLOGY

Hereditary sensory and autonomic neuropathy type IV orthopaedic complications

(2011) Ivo Marik et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B

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

(2011) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes

(2011) X. Bian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A

(2011) L. J. Byrnes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

(2010) Christian Guelly et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

(2010) DS McCorquodale et al.   CLINICAL GENETICS

Further assembly required: construction and dynamics of the endoplasmic reticulum network

(2010) Seong H Park et al.   EMBO REPORTS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

(2010) Seong H. Park et al.   JOURNAL OF CLINICAL INVESTIGATION

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

(2010) Coralie Fassier et al.   NATURE NEUROSCIENCE

Autophagy gone awry in neurodegenerative diseases

(2010) Esther Wong et al.   NATURE NEUROSCIENCE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Mechanisms Shaping the Membranes of Cellular Organelles

(2009) Yoko Shibata et al.   Annual Review of Cell and Developmental Biology

A Class of Dynamin-like GTPases Involved in the Generation of the Tubular ER Network

(2009) Junjie Hu et al.   CELL

Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum

(2009) Marie-Paule Muriel et al.   JOURNAL OF NEUROCHEMISTRY

Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin

(2009) Genny Orso et al.   NATURE

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

(2009) Ingo Kurth et al.   NATURE GENETICS

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

(2008) Neggy Rismanchi et al.   HUMAN MOLECULAR GENETICS

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

(2008) Olga Martins de Brito et al.   NATURE