Results 71 to 80 of about 10,687,918 (152)

Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2 [PDF]

, 2017
Mutations in myotubularin-related protein-2 (MTMR2) or MTMR13/set-binding factor-2 (SBF2) genes are responsible for the severe autosomal recessive hereditary neuropathies, Charcot-Marie-Tooth disease (CMT) types 4B1 and 4B2, both characterized by reduced
Tersar, Kristian, Volkmer, Benjamin, Berger, Philipp, Schaffitzel, Christiane, Suter, Ueli, Berger, Imre   +5 more
core  

Expression of myotubularin and its mutations in a bacterial system

, 2007
Die X-gebundene Myotubuläre Myopathie (XLMTM) ist eine sehr seltene und schwere angeborene Muskelschwäche, die durch Mutationen im MTM 1 Gen verursacht wird.
Dellinger, Eva
core   +1 more source

Crosstalk of Myotubularin-related protein 7 with RAS/WNT Driver Pathways in Colorectal Cancer

Colorectal Cancer, serving as a disease involving multiple mutations and different stages, poses a challenge in terms of non-responsiveness to current therapies, necessitating the identification of new druggable targets. The WNT/β-catenin and RAS pathways are extensively accepted as two essential contributors to CRC tumorigenesis.
openaire   +1 more source

Myotubularin-related proteins regulate KRAS function by controlling plasma membrane levels of polyphosphoinositides and phosphatidylserine

KRAS is a small GTPase, ubiquitously expressed in mammalian cells, that functions as a molecular switch to regulate cell proliferation and differentiation. Oncogenic mutations that render KRAS constitutively active occur frequently in human cancers. KRAS must localize to the plasma membrane (PM) for biological activity.
Henkels, Karen M., Miller, Taylor E., Naji, Ali, van der Hoeven, Ransome, Liang, Hong, Zhou, Yong, Hammond, Gerald R.V., Hancock, John F., Cho, Kwang-jin   +8 more
openaire   +1 more source

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13. [PDF]

Eur J Neurol
Bertini A, Reilly MM, Pisciotta C, Previtali SC, Parman Y, Battaloglu E, Laurà M, Blake J, Sacconi S, Attarian S, Stojkovic T, Bellatache M, Nouioua S, Tazir M, Cakar A, Gambardella A, Valentino P, Lewis RA, Horvath R, Zambon AA, Sabatelli M, Luigetti M, Tozza S, Manganelli F, Herrmann DN, Scherer SS, Kressin N, Ward K, Bolino A, Shy ME, Pareyson D, CMT4B Study Group, Inherited Neuropathy Consortium.   +32 more
europepmc   +1 more source

Phosphorylation dynamics of sodium-independent organic anion transporter SLCO4A1 and its role in diseases: a review. [PDF]

Front Syst Biol
Thomas J, Subair S, Mahin A, Gopalakrishnan AP, Shivamurthy PB, Rajeev AC, Raju R.   +6 more
europepmc   +1 more source

Beyond Membrane Remodeling: Organelle Crosstalk and Convergent Pathology in Centronuclear Myopathy. [PDF]

Muscles
Abolibdeh B, Williams CH.
europepmc   +1 more source

Pharmacological PIK3C2B inhibition rescues XLMTM phenotype in mouse models and identifies molecular markers of disease. [PDF]

JCI Insight
Shearer A, Brooks ML, Chen MM, Samarakoon T, Hsieh J, Kondakci G, Perola E, Brubaker J, Fetalvero K, Schalm S, Caetano-Lopes J.   +10 more
europepmc   +1 more source

Set binding factor 1 (SBF1/MTMR5) as a potential novel target in colorectal cancer: an exploratory immunohistochemical and bioinformatics study. [PDF]

Braz J Med Biol Res
Alatawi A, Alhabib I, Fagere M, Al-Jindan FA, Alsamman K, Alzahrani FM, Owaidah AY, El-Masry OS.   +7 more
europepmc   +1 more source

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy. [PDF]

JCI Insight
Gerlach Melhedegaard E, Rostedt F, Gineste C, Seaborne RA, Dugdale HF, Belhac V, Zanoteli E, Lawlor MW, Mack DL, Wallgren-Pettersson C, Hessel AL, Jungbluth H, Laporte J, Saito Y, Nishino I, Ochala J, Laitila J.   +16 more
europepmc   +1 more source