Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
AuthorsCoelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR,
JournalNat Genet
PubMed ID22922874
Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this vitamin, which is essential for hematological and neurological function, is transported and metabolized. We describe a new disease that results in failure to release vitamin B12 from lysosomes, which mimics the cblF defect caused by LMBRD1 mutations. ... More
An incremental approach to automated protein localisation.
AuthorsTscherepanow M, Jensen N, Kummert F,
JournalBMC Bioinformatics
PubMed ID18937856
'BACKGROUND: The subcellular localisation of proteins in intact living cells is an important means for gaining information about protein functions. Even dynamic processes can be captured, which can barely be predicted based on amino acid sequences. Besides increasing our knowledge about intracellular processes, this information facilitates the development of innovative ... More
Live cell imaging of G protein-coupled receptors.
AuthorsTeichmann A, Schmidt A, Wiesner B, Oksche A, Schülein R,
JournalMethods Mol Biol
PubMed ID22674164
Live cell imaging experiments with G protein-coupled receptors (GPCRs) tagged with fluorescent fusion proteins were originally performed to study trafficking and subcellular location of these important drug targets. In the past decade, however, substantial progress came from improved imaging methods and from the cloning of novel fluorescent fusion proteins. Today, ... More
MAVS regulates apoptotic cell death by decreasing K48-linked ubiquitination of voltage-dependent anion channel 1.
AuthorsGuan K, Zheng Z, Song T, He X, Xu C, Zhang Y, Ma S, Wang Y, Xu Q, Cao Y, Li J, Yang X, Ge X, Wei C, Zhong H,
Journal
PubMed ID23754752
The mitochondrial antiviral signaling protein MAVS (IPS-1, VISA, or Cardif) plays an important role in the host defense against viral infection by inducing type I interferon. Recent reports have shown that MAVS is also critical for virus-induced apoptosis. However, the mechanism of MAVS-mediated apoptosis induction remains unclear. Here, we show ... More
A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations.
AuthorsAbrahamsen G, Fan Y, Matigian N, Wali G, Bellette B, Sutharsan R, Raju J, Wood SA, Veivers D, Sue CM, Mackay-Sim A,
JournalDis Model Mech
PubMed ID23264559
Hereditary spastic paraplegia (HSP) leads to progressive gait disturbances with lower limb muscle weakness and spasticity. Mutations in SPAST are a major cause of adult-onset, autosomal-dominant HSP. Spastin, the protein encoded by SPAST, is a microtubule-severing protein that is enriched in the distal axon of corticospinal motor neurons, which degenerate ... More
Visualization of the peroxisomal compartment in living mammalian cells: dynamic behavior and association with microtubules.
Peroxisomes in living CV1 cells were visualized by targeting the green fluorescent protein (GFP) to this subcellular compartment through the addition of a COOH-terminal peroxisomal targeting signal 1 (GFP-PTS1). The organelle dynamics were examined and analyzed using time-lapse confocal laser scanning microscopy. Two types of movement could be distinguished: a ... More
Baculovirus-mediated gene transfer into mammalian cells.
AuthorsBoyce FM, Bucher NL,
JournalProc Natl Acad Sci U S A
PubMed ID8637876
This paper describes the use of the baculovirus Autographa californica multiple nuclear polyhedrosis virus (AcMNPV) as a vector for gene delivery into mammalian cells. A modified AcMNPV virus was prepared that carried the Escherichia coli lacZ reporter gene under control of the Rous sarcoma virus promoter and mammalian RNA processing ... More
BacMam technology and its application to drug discovery.
AuthorsAmes RS, Kost TA, Condreay JP,
JournalExpert Opin Drug Discov
PubMed ID23488908
The recombinant baculovirus/insect cell system was firmly established as a leading method for recombinant protein production when a new potential use for these viruses was revealed in 1995. It was reported that engineered recombinant baculoviruses could deliver functional expression cassettes to mammalian cell types; a system which has come to ... More
Nanofiber scaffolds influence organelle structure and function in bone marrow stromal cells.
AuthorsTutak W, Jyotsnendu G, Bajcsy P, Simon CG,
JournalJ Biomed Mater Res B Appl Biomater
PubMed ID26888543
'Recent work demonstrates that osteoprogenitor cell culture on nanofiber scaffolds can promote differentiation. This response may be driven by changes in cell morphology caused by the three-dimensional (3D) structure of nanofibers. We hypothesized that nanofiber effects on cell behavior may be mediated by changes in organelle structure and function. To ... More
Plasticity of ether lipids promotes ferroptosis susceptibility and evasion.
Authors
JournalNature
PubMed ID32939090
Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia.
Authors
JournalBiol Open
PubMed ID24857849
Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia.
Authors
JournalSci Rep
PubMed ID27229699
Enzymatic Noncovalent Synthesis for Mitochondrial Genetic Engineering of Cancer Cells.
Authors
JournalCell Rep Phys Sci
PubMed ID33511360
DRAM-1 encodes multiple isoforms that regulate autophagy.
Authors
JournalAutophagy
PubMed ID22082963
Calculated cell-specific intracellular hydrogen peroxide concentration: Relevance in cancer cell susceptibility during ascorbate therapy.
Authors
JournalFree Radic Biol Med
PubMed ID29601946
Acetyl-CoA flux from the cytosol to the ER regulates engagement and quality of the secretory pathway.
Authors
JournalSci Rep
PubMed ID33479349
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
AuthorsSheffer R, Douiev L, Edvardson S, Shaag A, Tamimi K, Soiferman D, Meiner V, Saada A,
JournalAm J Med Genet A
PubMed ID26992161
An emerging class of mitochondrial disorders is caused by mutations in nuclear genes affecting mitochondrial dynamics and function. One of these is the DNM1L gene encoding the dynamin-related protein 1 (DRP1), which is pivotal in the mitochondrial fission process. Here, we describe a patient with a novel dominant-negative, de novo ... More