Inhibition of Excessive Monoamine Oxidase A/B Activity Protects Against Stress-induced Neuronal Death in Huntington Disease

by Ooi, J, Hayden, M.R, Pouladi, M.A
Published 2020

Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment

by Utami, K.H., Yusof, N.A.B.M., Kwa, J.E., Peteri, U.-K., Castrén, M.L., Pouladi, M.A.
Published 2021

Histone modifications and p53 binding poise the p21 promoter for activation in human embryonic stem cells

by Itahana Y., Zhang J., Göke J., Vardy L.A., Han R., Iwamoto K., Cukuroglu E., Robson P., Pouladi M.A., Colman A., Itahana K.
Published 2020

Modeling Doxorubicin-Induced Cardiotoxicity in Human Pluripotent Stem Cell Derived-Cardiomyocytes

by Maillet, A, Tan, K, Chai, X, Sadananda, S.N, Mehta, A, Ooi, J, Hayden, M.R, Pouladi, M.A, Ghosh, S, Shim, W, Brunham, L.R
Published 2020

Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features

by Ziaei, A., Xu, X., Dehghani, L., Bonnard, C., Zellner, A., Ng, A.Y.J., Tohari, S., Venkatesh, B., Haffner, C., Reversade, B., Shaygannejad, V., Pouladi, M.A.
Published 2021

Laquinimod rescues striatal, cortical and white matter pathology and results in modest behavioural improvements in the YAC128 model of Huntington disease

by Garcia-Miralles, M, Hong, X, Tan, L.J, Caron, N.S, Huang, Y, To, X.V, Lin, R.Y, Franciosi, S, Papapetropoulos, S, Hayardeny, L, Hayden, M.R, Chuang, K.-H, Pouladi, M.A
Published 2020

A thiol probe for measuring unfolded protein load and proteostasis in cells

by Chen, M.Z, Moily, N.S, Bridgford, J.L, Wood, R.J, Radwan, M, Smith, T.A, Song, Z, Tang, B.Z, Tilley, L, Xu, X, Reid, G.E, Pouladi, M.A, Hong, Y, Hatters, D.M
Published 2020

Partial rescue of some features of Huntington Disease in the genetic absence of caspase-6 in YAC128 mice

by Wong B.K.Y., Ehrnhoefer D.E., Graham R.K., Martin D.D.O., Ladha S., Uribe V., Stanek L.M., Franciosi S., Qiu X., Deng Y., Kovalik V., Zhang W., Pouladi M.A., Shihabuddin L.S., Hayden M.R.
Published 2016

Anti-semaphorin 4D immunotherapy ameliorates neuropathology and some cognitive impairment in the YAC128 mouse model of Huntington disease

by Southwell A.L., Franciosi S., Villanueva E.B., Xie Y., Winter L.A., Veeraraghavan J., Jonason A., Felczak B., Zhang W., Kovalik V., Waltl S., Hall G., Pouladi M.A., Smith E.S., Bowers W.J., Zauderer M., Hayden M.R.
Published 2016

Unbiased Profiling of Isogenic Huntington Disease hPSC-Derived CNS and Peripheral Cells Reveals Strong Cell-Type Specificity of CAG Length Effects

by Ooi, J., Langley, S.R., Xu, X., Utami, K.H., Sim, B., Huang, Y., Harmston, N.P., Tay, Y.L., Ziaei, A., Zeng, R., Low, D., Aminkeng, F., Sobota, R.M., Ginhoux, F., Petretto, E., Pouladi, M.A.
Published 2021

pS421 huntingtin modulates mitochondrial phenotypes and confers neuroprotection in an HD hiPSC model

by Xu, X., Ng, B., Sim, B., Radulescu, C.I., Yusof, N.A.B.M., Goh, W.I., Lin, S., Lim, J.S.Y., Cha, Y., Kusko, R., Kay, C., Ratovitski, T., Ross, C., Hayden, M.R., Wright, G., Pouladi, M.A.
Published 2021

A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability

by Chia, P.H, Zhong, F.L, Niwa, S, Bonnard, C, Utami, K.H, Zeng, R, Lee, H, Eskin, A, Nelson, S.F, Xie, W.H, Al-Tawalbeh, S, El-Khateeb, M, Shboul, M, Pouladi, M.A, Al-Raqad, M, Reversade, B
Published 2020

Narciclasine attenuates diet-induced obesity by promoting oxidative metabolism in skeletal muscle

by Julien S.G., Kim S.-Y., Brunmeir R., Sinnakannu J.R., Ge X., Li H., Ma W., Yaligar J., Bhanu Prakash K.N., Velan S.S., R�der P.V., Zhang Q., Sim C.K., Wu J., Garcia-Miralles M., Pouladi M.A., Xie W., McFarlane C., Han W., Xu F.
Published 2019

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

by Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T.-T., Eio, M.Y., Narayanan, G., Utami, K.H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H.M., Gunay-Aygun, M., Muriello, M.J., Verhelst, H., Weckhuysen, S., Mahida, S., Naidu, S., Thomas, T.G., Lim, J.Y., Tan, E.S., Haye, D., Willemsen, M.A.A.P., Oegema, R., Mitchell, W.G., Pierson, T.M., Andrews, M.V., Willing, M.C., Rodan, L.H., Barakat, T.S., van Slegtenhorst, M., Gavrilova, R.H., Martinelli, D., Gilboa, T., Tamim, A.M., Hashem, M.O., AlSayed, M.D., Abdulrahim, M.M., Al-Owain, M., Awaji, A., Mahmoud, A.A.H., Faqeih, E.A., Asmari, A.A., Algain, S.M., Jad, L.A., Aldhalaan, H.M., Helbig, I., Koolen, D.A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A.Y.J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L.E., Klee, E.W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M.A., Stewart, J.C., Claridge-Chang, A., Lefeber, D.J., Alkuraya, F.S., Mathuru, A.S., Venkatesh, B., Barycki, J.J., Simpson, M.A., Jamuar, S.S., Schöls, L., Reversade, B.
Published 2021