Related references
Note: Only part of the references are listed.BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling
Wulin Yang et al.
HUMAN MOLECULAR GENETICS (2014)
Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus
Wulin Yang et al.
BIOCHEMICAL JOURNAL (2013)
Syntaxin-1 N-peptide and Habc-domain perform distinct essential functions in synaptic vesicle fusion
Peng Zhou et al.
EMBO JOURNAL (2013)
Seipin regulates excitatory synaptic transmission in cortical neurons
Shunhui Wei et al.
JOURNAL OF NEUROCHEMISTRY (2013)
Suppression of Adipogenesis by Pathogenic Seipin Mutant Is Associated with Inflammatory Response
Wenjie Qiu et al.
PLOS ONE (2013)
Motor neuron degeneration in a mouse model of seipinopathy
J. Guo et al.
CELL DEATH & DISEASE (2013)
Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Is a Cell-Autonomous Regulator of Lipolysis Essential for Adipocyte Differentiation
Weiqin Chen et al.
MOLECULAR AND CELLULAR BIOLOGY (2012)
Neuroanatomical Characterisation of the Expression of the Lipodystrophy and Motor-Neuropathy Gene Bscl2 in Adult Mouse Brain
Alastair S. Garfield et al.
PLOS ONE (2012)
RIM Proteins Tether Ca2+ Channels to Presynaptic Active Zones via a Direct PDZ-Domain Interaction
Pascal S. Kaeser et al.
CELL (2011)
Seipin ablation in mice results in severe generalized lipodystrophy
Xin Cui et al.
HUMAN MOLECULAR GENETICS (2011)
RIM Determines Ca2+ Channel Density and Vesicle Docking at the Presynaptic Active Zone
Yunyun Han et al.
NEURON (2011)
Seipinopathy: a novel endoplasmic reticulum stress-associated disease
Daisuke Ito et al.
BRAIN (2009)
Synaptotagmin-1 Docks Secretory Vesicles to Syntaxin-1/SNAP-25 Acceptor Complexes
Heidi de Wit et al.
CELL (2009)
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome
Debora M. Miranda et al.
CLINICAL ENDOCRINOLOGY (2009)
Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes
Frans Brugman et al.
JOURNAL OF NEUROLOGY (2009)
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
Esther Brusse et al.
NEUROGENETICS (2009)
Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2
Bin Chen et al.
NEUROPATHOLOGY (2009)
Complexin Controls the Force Transfer from SNARE Complexes to Membranes in Fusion
Anton Maximov et al.
SCIENCE (2009)
Membrane Fusion: Grappling with SNARE and SM Proteins
Thomas C. Sudhof et al.
SCIENCE (2009)
Conformational switch of syntaxin-1 controls synaptic vesicle fusion
Stefan H. Gerber et al.
SCIENCE (2008)
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome
Barbara Rohkamm et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2007)
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy
Hyun-Jung Cho et al.
MUSCLE & NERVE (2007)
Monitoring synaptic transmission in primary neuronal cultures using local extracellular stimulation
Anton Maximov et al.
JOURNAL OF NEUROSCIENCE METHODS (2007)
A guided tour into subcellular colocalization analysis in light microscopy
S. Bolte et al.
JOURNAL OF MICROSCOPY (2006)
Actin-dependent activation of presynaptic silent synapses contributes to long-term synaptic plasticity in developing hippocampal neurons
Jun Yao et al.
JOURNAL OF NEUROSCIENCE (2006)
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation
M Auer-Grumbach et al.
ANNALS OF NEUROLOGY (2005)
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
C Windpassinger et al.
NATURE GENETICS (2004)
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
J Irobi et al.
BRAIN (2004)
Seipin: a mysterious protein
AK Agarwal et al.
TRENDS IN MOLECULAR MEDICINE (2004)
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome:: Phenotype variability suggests important modifier effects
M Fu et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy
AK Agarwal et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Emerging roles of presynaptic proteins in Ca++-triggered exocytosis
J Rettig et al.
SCIENCE (2002)
Germline transmission and tissue-specific expression of transgenes delivered by lentiviral vectors
C Lois et al.
SCIENCE (2002)
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
J Magré et al.
NATURE GENETICS (2001)