Latest journals

Ahnak

Ahnak is encoded by an intronless gene located on human chromosome 11q12. It has been implicated in fundamental cellular processes as diverse as cell differentiation, signal transduction, and regulated exocytosis.

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Publications of the CRG 192

Another side to statin related side effects.
Ann Int Med, in press
Knoblauch H*, Schöwel V*, Kress W, Kassner U, Spuler S. (*contributed equally)

PTRF-CAVIN mutations cause generalized caveolopathy with lipodystrophy, rippling muscle disease, and complex cardiac arrhythmias.
PLoS Genetics. March 10, in press
Rajab A, Straub V, Seelow D, Varon R, Barresi R, Schulze A, Lucke B, Lützkendorf S, Mohsen K, McCann LJ, Spuler S, Schuelke M.  

LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.
J Clin Endocrin Metab. 2010 Feb 3. Epub ahead of print
Boschmann M, Engeli S, Moro C, Luedtke A, Adams F, Gorzelniak K, Rahn G, Mähler A, Dobberstein K, Krüger A, Schmidt S, Spuler S, Luft FC, Smith SR, Schmidt HHJ, Jordan J.

Free fatty acids link metabolism and regulation of the insulin-sensitizing fibroblast growth factor-21.
Diabetes 2009 Jul;58(7):1532-8.
Mai K, Andres J, Biedasek K, Weicht J, Bobbert T, Sabath M, Meinus S, Reinecke F, Möhlig M, Weickert MO, Clemenz M, Pfeiffer AF, Kintscher U, Spuler S, Spranger J.

Usefulness of minimal modelling to assess impaired insulin sensitivity in patients with chronic heart failure.
Int J Cardiol. 2009 Sep 4. Epub ahead of print
Szabo T, von Haehling S, Habedank D, Rauchhaus M, Lainscak M, Sandek A, Schefold J, Anker SD, Doehner W.

Altered contractility of skeletal muscle in mice deficient in titin's M-band region.  
J Mol Biol. 2009 Oct 16;393(1):10-26.
Ottenheijm CA, Hidalgo C, Rost K, Gotthardt M, Granzier H.

Myopathy causing camptocormia in idiopathic Parkinson's disease: a multidisciplinary approach.
Movement Dis. 2009. Epub ahead of print
Spuler S, Krug H, Klein C, Chaure-Medialdea I, Jakob W, Ebersbach G, Gruber D, Hoffmann KT, Trottenberg T, Kupsch A.   

Cardiac involvement in sporadic inclusion body myositis.
Circulation. 2010 Feb 9;121(5): 706-8.
Utz W, Schmidt S, Schulz-Menger J, Luft FC, Spuler S.  

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
Ann Neurol. 2009 Aug 21;67(1):136–140.
Knoblauch H, Geier C, Adams S, Budde B, Rudolph A, Schulz-Menger J, Spuler A, Ben Yaou R, Nürnberg, P, Voit T, Bonne G, Spuler S. 

Nonexcitable muscle membrane predicts intensive care unit-acquired paresis in mechanically ventilated, sedated patients. 
Crit Care Med. 2009 Sep;37(9):2632-2637.
Weber-Carstens S, Koch S, Spuler S, Spies CD, Bubser F, Wernecke KD, Deja M.

Dysferlin-deficient muscular dystrophy: gadofluorine M suitability at MR imaging in a mouse model.
Radiology. 2009 Jan;250(1):87-94. 
Schmidt S, Vieweger A, Obst M, Mueller S, Gross V, Gutberlet M, Steinbrink J, Taubert S, Misselwitz B, Luedemann L, Spuler S.

Microinjected antibodies interfere with protein nucleocytoplasmic shuttling by distinct molecular mechanisms.
Cytometry A. 2008 Dec;73A(12):1128-40.
Marg A, Meyer T, Vigneron M, Vinkemeier U.

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Hum Mol Gen. 2008 Sep;17(18):2753-65.
Geier C, Gehmlich K, Ehler E, Hassfeld E, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch M, Bublak A, Nägele H, Scheffold T, Chien KR, Dietz R, Osterziel KJ, Spuler S, Fuerst DO, Nürnberg P, Özcelik C.

Tyrosine phosphorylation regulates the partitioning of STAT1 between different dimer conformations.
Proc Natl Acad Sci U S A. 2008 Jul;105(27):9238-43.
Wenta N, Strauss H, Meyer S, Vinkemeier U.

A proteome map of murine heart and skeletal muscle.
Proteomics. 2008 May;8(9):1885-97.
Raddatz K, Albrecht D, Hochgräfe F, Hecker M, Gotthardt M.

Dysferlin deficient muscular dystrophy features amyloidosis.
Ann Neurol. 2008 Mar;63(3):323-8.
Simone Spuler, Miriam Carl, Joanna Zabojszcza, Volker Straub, Kate Bushby,  Steven A. Moore, Sylvia Bähring,  Katrin Wenzel, Uwe Vinkemeier, Christoph Rocken

Dysferlin, dystrophy, and dilatative cardiomyopathy. 
J Mol Med. 2007 Nov;85(11):1157-9.
Luft, Friedrich C. 

Dysfunction of dysferlin-deficient hearts.
J Mol Med. 2007 Nov;85(11):1203-14.
Wenzel K, Geier C, Qadri F, Hubner N, Schulz H, Erdmann B, Gross V, Bauer D, Dechend R, Dietz R, Osterziel KJ, Spuler S*, Ozcelik C* (*contributed equally)