Product References
Spatial proteomics reveals secretory pathway disturbances caused by neuropathy-associated TECPR2.
Nature communications
Nalbach K,Schifferer M,Bhattacharya D,Ho-Xuan H,Tseng WC,Williams LA,Stolz A,Lichtenthaler SF,Elazar Z,Behrends C
Thu Feb 16 00:00:00 EST 2023
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology
Diquigiovanni C,Bergamini C,Diaz R,Liparulo I,Bianco F,Masin L,Baldassarro VA,Rizzardi N,Tranchina A,Buscherini F,Wischmeijer A,Pippucci T,Scarano E,Cordelli DM,Fato R,Seri M,Paracchini S,Bonora E
Tue Oct 01 00:00:00 EDT 2019
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology
Diquigiovanni C,Bergamini C,Diaz R,Liparulo I,Bianco F,Masin L,Baldassarro VA,Rizzardi N,Tranchina A,Buscherini F,Wischmeijer A,Pippucci T,Scarano E,Cordelli DM,Fato R,Seri M,Paracchini S,Bonora E
Tue Oct 01 00:00:00 EDT 2019
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.
JIMD reports
Spiegel R,Soiferman D,Shaag A,Shalev S,Elpeleg O,Saada A
Wed Sep 30 00:00:00 EDT 2020
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.
JIMD reports
Spiegel R,Soiferman D,Shaag A,Shalev S,Elpeleg O,Saada A
Wed Sep 30 00:00:00 EDT 2020
Germline deletion of huntingtin causes male infertility and arrested spermiogenesis in mice.
Journal of cell science
Yan J,Zhang H,Liu Y,Zhao F,Zhu S,Xie C,Tang TS,Guo C
Mon Feb 01 00:00:00 EST 2016
Germline deletion of huntingtin causes male infertility and arrested spermiogenesis in mice.
Journal of cell science
Yan J,Zhang H,Liu Y,Zhao F,Zhu S,Xie C,Tang TS,Guo C
Mon Feb 01 00:00:00 EST 2016
Chromosome mis-segregation and cytokinesis failure in trisomic human cells.
eLife
Nicholson JM,Macedo JC,Mattingly AJ,Wangsa D,Camps J,Lima V,Gomes AM,Dória S,Ried T,Logarinho E,Cimini D
Tue May 05 00:00:00 EDT 2015
Chromosome mis-segregation and cytokinesis failure in trisomic human cells.
eLife
Nicholson JM,Macedo JC,Mattingly AJ,Wangsa D,Camps J,Lima V,Gomes AM,Dória S,Ried T,Logarinho E,Cimini D
Tue May 05 00:00:00 EDT 2015
Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells.
Cell biology international
Milewska M,Byrne PC
Tue Sep 01 00:00:00 EDT 2015
Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells.
Cell biology international
Milewska M,Byrne PC
Tue Sep 01 00:00:00 EDT 2015
The role of spartin and its novel ubiquitin binding region in DALIS occurrence.
Molecular biology of the cell
Karlsson AB,Washington J,Dimitrova V,Hooper C,Shekhtman A,Bakowska JC
Tue Apr 01 00:00:00 EDT 2014
The role of spartin and its novel ubiquitin binding region in DALIS occurrence.
Molecular biology of the cell
Karlsson AB,Washington J,Dimitrova V,Hooper C,Shekhtman A,Bakowska JC
Tue Apr 01 00:00:00 EDT 2014
The role of spartin and its novel ubiquitin binding region in DALIS occurrence.
Molecular biology of the cell
Karlsson AB,Washington J,Dimitrova V,Hooper C,Shekhtman A,Bakowska JC
Tue Apr 01 00:00:00 EDT 2014
The role of spartin and its novel ubiquitin binding region in DALIS occurrence.
Molecular biology of the cell
Karlsson AB,Washington J,Dimitrova V,Hooper C,Shekhtman A,Bakowska JC
Tue Apr 01 00:00:00 EDT 2014
Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.
Human molecular genetics
Renvoisé B,Stadler J,Singh R,Bakowska JC,Blackstone C
Wed Aug 15 00:00:00 EDT 2012
Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.
Human molecular genetics
Renvoisé B,Stadler J,Singh R,Bakowska JC,Blackstone C
Wed Aug 15 00:00:00 EDT 2012
Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.
Human molecular genetics
Renvoisé B,Stadler J,Singh R,Bakowska JC,Blackstone C
Wed Aug 15 00:00:00 EDT 2012
Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.
Human molecular genetics
Renvoisé B,Stadler J,Singh R,Bakowska JC,Blackstone C
Wed Aug 15 00:00:00 EDT 2012
SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis.
Oncogene
Lind GE,Raiborg C,Danielsen SA,Rognum TO,Thiis-Evensen E,Hoff G,Nesbakken A,Stenmark H,Lothe RA
Thu Sep 15 00:00:00 EDT 2011
SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis.
Oncogene
Lind GE,Raiborg C,Danielsen SA,Rognum TO,Thiis-Evensen E,Hoff G,Nesbakken A,Stenmark H,Lothe RA
Thu Sep 15 00:00:00 EDT 2011
SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis.
Oncogene
Lind GE,Raiborg C,Danielsen SA,Rognum TO,Thiis-Evensen E,Hoff G,Nesbakken A,Stenmark H,Lothe RA
Thu Sep 15 00:00:00 EDT 2011
SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis.
Oncogene
Lind GE,Raiborg C,Danielsen SA,Rognum TO,Thiis-Evensen E,Hoff G,Nesbakken A,Stenmark H,Lothe RA
Thu Sep 15 00:00:00 EDT 2011
Spartin recruits PKC-ζ via the PKC-ζ-interacting proteins ZIP1 and ZIP3 to lipid droplets.
Journal of neurochemistry
Urbanczyk A,Enz R
Thu Sep 01 00:00:00 EDT 2011
Spartin recruits PKC-ζ via the PKC-ζ-interacting proteins ZIP1 and ZIP3 to lipid droplets.
Journal of neurochemistry
Urbanczyk A,Enz R
Thu Sep 01 00:00:00 EDT 2011
Spartin recruits PKC-ζ via the PKC-ζ-interacting proteins ZIP1 and ZIP3 to lipid droplets.
Journal of neurochemistry
Urbanczyk A,Enz R
Thu Sep 01 00:00:00 EDT 2011
Developmental and degenerative features in a complicated spastic paraplegia.
Annals of neurology
Manzini MC,Rajab A,Maynard TM,Mochida GH,Tan WH,Nasir R,Hill RS,Gleason D,Al Saffar M,Partlow JN,Barry BJ,Vernon M,LaMantia AS,Walsh CA
Thu Apr 01 00:00:00 EDT 2010
Developmental and degenerative features in a complicated spastic paraplegia.
Annals of neurology
Manzini MC,Rajab A,Maynard TM,Mochida GH,Tan WH,Nasir R,Hill RS,Gleason D,Al Saffar M,Partlow JN,Barry BJ,Vernon M,LaMantia AS,Walsh CA
Thu Apr 01 00:00:00 EDT 2010