Membrane-shaping disorders: a common pathway in axon degeneration (Q26852808)

language of work or name

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December 2014

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137

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PubMed

issue

Pt 12

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PubMed

page(s)

3109-21

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Modulation of the neural glutamate transporter EAAC1 by the addicsin-interacting protein ARL6IP1

PubMed

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Chaperonin chamber accelerates protein folding through passive action of preventing aggregation

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Hereditary sensory and autonomic neuropathies

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COPII: a membrane coat formed by Sec proteins that drive vesicle budding from the endoplasmic reticulum

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

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A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

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Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

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

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Autophagosome formation: tracing the source

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Reticulon1-C modulates protein disulphide isomerase function

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

21 January 2018

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REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity

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Cellular pathways of hereditary spastic paraplegia

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The mechanisms of vesicle budding and fusion

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A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

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Endoplasmic reticulum architecture: structures in flux.

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

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STIM proteins and the endoplasmic reticulum-plasma membrane junctions

21 January 2018

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

21 January 2018

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Imaging interorganelle contacts and local calcium dynamics at the ER-mitochondrial interface

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

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

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REEPing the benefits of an animal model of hereditary spastic paraplegia

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

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Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

21 January 2018

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Endoplasmic reticulum structure and interconnections with other organelles

21 January 2018

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Rab10 GTPase regulates ER dynamics and morphology

21 January 2018

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Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

21 January 2018

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Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance

21 January 2018

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Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology

21 January 2018

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Lipid droplets finally get a little R-E-S-P-E-C-T.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Ca2+ hot spots on the mitochondrial surface are generated by Ca2+ mobilization from stores, but not by activation of store-operated Ca2+ channels.

21 January 2018

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

21 January 2018

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Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

21 January 2018

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Autophagosomes form at ER-mitochondria contact sites

21 January 2018

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Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

21 January 2018

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Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia

21 January 2018

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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

21 January 2018

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Organization and function of membrane contact sites

21 January 2018

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Membrane proteins of the endoplasmic reticulum induce high-curvature tubules

21 January 2018

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A class of dynamin-like GTPases involved in the generation of the tubular ER network

21 January 2018

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Arl6ip1 plays a role in proliferation during zebrafish retinogenesis

21 January 2018

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

21 January 2018

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REEP2 enhances sweet receptor function by recruitment to lipid rafts

21 January 2018

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The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement

21 January 2018

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Reticulon 4 is necessary for endoplasmic reticulum tubulation, STIM1-Orai1 coupling, and store-operated calcium entry

21 January 2018

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

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

21 January 2018

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A conserved role for atlastin GTPases in regulating lipid droplet size

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Bi-directional protein transport between the ER and Golgi

21 January 2018

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Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene

21 January 2018

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

21 January 2018

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The AAA ATPase spastin links microtubule severing to membrane modelling.

21 January 2018

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ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

21 January 2018

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The role of ZFYVE27/protrudin in hereditary spastic paraplegia

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU287

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

21 January 2018

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Mutation in FAM134B causing severe hereditary sensory neuropathy

21 January 2018

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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

21 January 2018

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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

21 January 2018

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A reticular rhapsody: phylogenic evolution and nomenclature of the RTN/Nogo gene family

21 January 2018

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

21 January 2018

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Store-operated calcium channels

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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The dynamin superfamily: universal membrane tubulation and fission molecules?

21 January 2018

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

21 January 2018

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A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

21 January 2018

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

21 January 2018

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Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

21 January 2018

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

21 January 2018

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Signal integration in the endoplasmic reticulum unfolded protein response

21 January 2018

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Mechanisms of disease in hereditary sensory and autonomic neuropathies

21 January 2018

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RTP family members induce functional expression of mammalian odorant receptors

21 January 2018

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Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

21 January 2018

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Learning biomarkers of pluripotent stem cells in mouse

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

21 January 2018

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A comprehensive comparison of transmembrane domains reveals organelle-specific properties

21 January 2018

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

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Mechanisms shaping the membranes of cellular organelles

21 January 2018

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The reticulon and DP1/Yop1p proteins form immobile oligomers in the tubular endoplasmic reticulum

21 January 2018

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Membrane fusion: grappling with SNARE and SM proteins

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

21 January 2018

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Zebrafish arl6ip1 is required for neural crest development during embryogenesis

21 January 2018

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A class of membrane proteins shaping the tubular endoplasmic reticulum

21 January 2018

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

21 January 2018

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Reticulon 3 is involved in membrane trafficking between the endoplasmic reticulum and Golgi

21 January 2018

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

21 January 2018

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Developmentally regulated cDNA expressed exclusively in neural tissue

21 January 2018

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TFG-1 function in protein secretion and oncogenesis

21 January 2018

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Autophagy gone awry in neurodegenerative diseases

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU287

Reticulon-4A (Nogo-A) redistributes protein disulfide isomerase to protect mice from SOD1-dependent amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU287

The reticulons: a family of proteins with diverse functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU287

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU287

How proteins produce cellular membrane curvature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU287

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU287

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU287

Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Clinical and genetic study of a large Italian family linked to SPG12 locus

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inferred from DOI database lookup

7 January 2021

based on heuristic

Elastic properties of lipid bilayers: theory and possible experiments

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU287