Membrane-shaping disorders: a common pathway in axon degeneration

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

(2014) Typhaine Esteves et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1

(2014) Dirk Fischer et al.   BRAIN

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

(2014) Uwe Kornak et al.   BRAIN

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

(2014) Tahir Naeem Khan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

JK1 (FAM134B) gene and colorectal cancer: A pilot study on the gene copy number alterations and correlations with clinicopathological parameters

(2014) Kais Kasem et al.   EXPERIMENTAL AND MOLECULAR PATHOLOGY

Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology

(2014) Julia Falk et al.   HUMAN MUTATION

Reticulon 4 Is Necessary for Endoplasmic Reticulum Tubulation, STIM1-Orai1 Coupling, and Store-operated Calcium Entry

(2014) Levente Jozsef et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Protrudin Regulates Endoplasmic Reticulum Morphology and Function Associated with the Pathogenesis of Hereditary Spastic Paraplegia

(2014) Yutaka Hashimoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rab18 and a Rab18 GEF complex are required for normal ER structure

(2014) Andreas Gerondopoulos et al.   JOURNAL OF CELL BIOLOGY

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

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

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Arl6IP1 has the ability to shape the mammalian ER membrane in a reticulon-like fashion

(2013) Yasunori Yamamoto et al.   BIOCHEMICAL JOURNAL

Organization and function of membrane contact sites

(2013) Sebastian C.J. Helle et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Autophagosome Formation: Tracing the Source

(2013) Amélie Bernard et al.   DEVELOPMENTAL CELL

Determination of topological structure of ARL6ip1 in cells: Identification of the essential binding region of ARL6ip1 for conophylline

(2013) Masahiro Kuroda et al.   FEBS LETTERS

Novel genes FAM134C, C3orf10 and ENOX1 are regulated by NRF-1 and differentially regulate neurite outgrowth in neuroblastoma cells and hippocampal neurons

(2013) Jen-Ling Wang et al.   GENE

Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

(2013) Mark T. Handley et al.   HUMAN MUTATION

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

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

REEPing the benefits of an animal model of hereditary spastic paraplegia

(2013) Ariel Y. Deutch et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutation inFAM134Bcausing hereditary sensory neuropathy with spasticity in a Turkish family

(2013) Elif Ilgaz Aydinlar et al.   MUSCLE & NERVE

Autophagosomes form at ER–mitochondria contact sites

(2013) Maho Hamasaki et al.   NATURE

REEPs Are Membrane Shaping Adapter Proteins That Modulate Specific G Protein-Coupled Receptor Trafficking by Affecting ER Cargo Capacity

(2013) Susann Björk et al.   PLoS One

Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation

(2013) J. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

(2013) C. Beetz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide association study of schizophrenia using microsatellite markers in the Japanese population

(2013) Hiroki Shibata et al.   PSYCHIATRIC GENETICS

Endoplasmic Reticulum Structure and Interconnections with Other Organelles

(2013) A. R. English et al.   Cold Spring Harbor Perspectives in Biology

Reticulon1-C modulates protein disulphide isomerase function

(2013) P Bernardoni et al.   Cell Death & Disease

A Conserved Role for Atlastin GTPases in Regulating Lipid Droplet Size

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

Proximal Dominant Hereditary Motor and Sensory Neuropathy With Proximal Dominance Association With Mutation in the TRK-Fused Gene

(2013) Sang-Soo Lee et al.   JAMA Neurology

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

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

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

(2012) Hiroyuki Ishiura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Where the endoplasmic reticulum and the mitochondrion tie the knot: The mitochondria-associated membrane (MAM)

(2012) Arun Raturi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Arl6ip1 Plays a Role in Proliferation during Zebrafish Retinogenesis

(2012) Hsing-Yen Huang et al.   CELLS TISSUES ORGANS

The reticulons: Guardians of the structure and function of the endoplasmic reticulum

(2012) Federica Di Sano et al.   EXPERIMENTAL CELL RESEARCH

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

(2012) Vincent Timmerman et al.   EXPERIMENTAL NEUROLOGY

Reticulon-like-1, the Drosophila orthologue of the Hereditary Spastic Paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons

(2012) N. C. O'Sullivan et al.   HUMAN MOLECULAR GENETICS

ER-shaping proteins facilitate lipid exchange between the ER and mitochondria in S. cerevisiae

(2012) C. Voss et al.   JOURNAL OF CELL SCIENCE

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

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

(2012) S. T. Bot et al.   JOURNAL OF NEUROLOGY

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

Rab10 GTPase regulates ER dynamics and morphology

(2012) Amber R. English et al.   NATURE CELL BIOLOGY

Mechanisms of disease in hereditary sensory and autonomic neuropathies

(2012) Annelies Rotthier et al.   Nature Reviews Neurology

Zebrafish arl6ip1 Is Required for Neural Crest Development during Embryogenesis

(2012) Chi-Tang Tu et al.   PLoS One

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

STIM Proteins and the Endoplasmic Reticulum-Plasma Membrane Junctions

(2011) Silvia Carrasco et al.   Annual Review of Biochemistry

The AAA ATPase spastin links microtubule severing to membrane modelling

(2011) Jennifer H. Lumb et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Learning Biomarkers of Pluripotent Stem Cells in Mouse

(2011) L. Scheubert et al.   DNA RESEARCH

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

(2011) Cyril Goizet et al.   HUMAN MUTATION

TFG-1 function in protein secretion and oncogenesis

(2011) Kristen Witte et al.   NATURE CELL BIOLOGY

Membrane fusion by the GTPase atlastin requires a conserved C-terminal cytoplasmic tail and dimerization through the middle domain

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

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

GTP-dependent packing of a three-helix bundle is required for atlastin-mediated fusion

(2011) D. Pendin 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

A Comprehensive Comparison of Transmembrane Domains Reveals Organelle-Specific Properties

(2010) Hayley J. Sharpe et al.   CELL

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

(2010) DS McCorquodale et al.   CLINICAL GENETICS

Emerging themes of ER organization in the development and maintenance of axons

(2010) Benoît Renvoisé et al.   CURRENT OPINION IN NEUROBIOLOGY

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

(2010) Seong H Park et al.   EMBO REPORTS

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

(2010) Guntram Borck et al.   HUMAN GENETICS

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

Mutation in FAM134B causing severe hereditary sensory neuropathy: Figure 1

(2010) Sinéad M Murphy et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

REEP2 Enhances Sweet Receptor Function by Recruitment to Lipid Rafts

(2010) E. Ilegems et al.   JOURNAL OF NEUROSCIENCE

Ca2+ Hot Spots on the Mitochondrial Surface Are Generated by Ca2+ Mobilization from Stores, but Not by Activation of Store-Operated Ca2+ Channels

(2010) Marta Giacomello et al.   MOLECULAR CELL

Imaging Interorganelle Contacts and Local Calcium Dynamics at the ER-Mitochondrial Interface

(2010) György Csordás et al.   MOLECULAR CELL

Autophagy gone awry in neurodegenerative diseases

(2010) Esther Wong et al.   NATURE NEUROSCIENCE

Membrane budding and scission by the ESCRT machinery: it's all in the neck

(2010) James H. Hurley et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A strong synergistic epistasis between FAM134B and TNFRSF19 on the susceptibility to vascular dementia

(2010) Minyoung Kong et al.   PSYCHIATRIC GENETICS

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

Lipid Droplets Finally Get a Little R-E-S-P-E-C-T

(2009) Robert V. Farese et al.   CELL

Membrane expansion alleviates endoplasmic reticulum stress independently of the unfolded protein response

(2009) Sebastian Schuck et al.   JOURNAL OF CELL BIOLOGY

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

Reticulon-4A (Nogo-A) Redistributes Protein Disulfide Isomerase to Protect Mice from SOD1-Dependent Amyotrophic Lateral Sclerosis

(2009) Y. S. Yang et al.   JOURNAL OF NEUROSCIENCE

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

Membrane Fusion: Grappling with SNARE and SM Proteins

(2009) T. C. Sudhof et al.   SCIENCE

The Role of ZFYVE27/Protrudin in Hereditary Spastic Paraplegia

(2008) Monica Martignoni et al.   AMERICAN JOURNAL OF HUMAN GENETICS

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

(2008) Christian Beetz et al.   BRAIN

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

(2008) Neggy Rismanchi et al.   HUMAN MOLECULAR GENETICS

Modulation of the Neural Glutamate Transporter EAAC1 by the Addicsin-interacting Protein ARL6IP1

(2008) Saori Akiduki et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Reticulon and Dp1/Yop1p Proteins Form Immobile Oligomers in the Tubular Endoplasmic Reticulum

(2008) Yoko Shibata et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

(2008) Antonina Roll-Mecak et al.   NATURE

Chaperonin chamber accelerates protein folding through passive action of preventing aggregation

(2008) A. C. Apetri et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Membrane Proteins of the Endoplasmic Reticulum Induce High-Curvature Tubules

(2008) J. Hu et al.   SCIENCE