Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown. Here we show that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with...

Полное описание

Библиографические подробности
Главные авторы:	Broix, L, Jagline, H, L Ivanova, E, Schmucker, S, Drouot, N, Clayton-Smith, J, Pagnamenta, A, Metcalfe, K, Isidor, B, Louvier, U, Poduri, A, Taylor, J, Tilly, P, Poirier, K, Saillour, Y, Lebrun, N, Stemmelen, T, Rudolf, G, Muraca, G, Saintpierre, B, Elmorjani, A, Deciphering Developmental Disorders study, Moïse, M, Weirauch, N, Guerrini, R, Boland, A, Olaso, R, Masson, C, Tripathy, R, Keays, D, Beldjord, C, Nguyen, L, Godin, J, Kini, U, Nischké, P, Deleuze, J, Bahi-Buisson, N, Sumara, I, Hinckelmann, M, Chelly, J
Формат:	Journal article
Язык:	English
Опубликовано:	Springer Nature 2016

Схожие документы

Prevalence and architecture of de novo mutations in developmental disorders
по: Parker, M, и др.
Опубликовано: (2017)

Fuzzy sets, natural language computations, and risk analysis /
по: 346421 Schmucker, Kurt J.
Опубликовано: (1984)

A comparative study of the dress, food and leisure of domestic servants in France and Britain, 1900-1939
по: Louvier, F
Опубликовано: (2019)

Beyond the black and white: female domestic servants, dress and identity in France and Britain, 1900-1939
по: Louvier, F
Опубликовано: (2019)

Crossroads: Exploring how micro organizations that leverage design shape urbanism practice
по: Isidor, Melissa
Опубликовано: (2023)

Relationship between filial responsibility, self-esteem, emotional regulation and subjective well-being among Pakistani community-dwelling older adults
по: Hassan, Sumara Masood Ul
Опубликовано: (2019)

Perancangan Tata Letak Fasilitas Produksi (Relayout) Guna Perluasan Area Produksi Pengecoran Logam
по: Hartik, Sumara, и др.
Опубликовано: (2019)

The development and characteristics of fans
по: Southam, Albert Edward., и др.
Опубликовано: (2020)

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
по: Cleaver, RJ, и др.
Опубликовано: (2019)

Research in social movements, conflicts and change /
по: Kriesberg, Louis, и др.
Опубликовано: (1997)

Handbook of large turbo-generator operation and maintenance /
по: 336872 Klempner, Geoff, и др.
Опубликовано: (2008)

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
по: Poirier, K, и др.
Опубликовано: (2007)

Ubiquitin ligase Nedd4 promotes alpha-synuclein degradation by the endosomal-lysosomal pathway.
по: Tofaris, G, и др.
Опубликовано: (2011)

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
по: Jaglin, X, и др.
Опубликовано: (2009)

De novo mutations in EBF3 cause a neurodevelopmental syndrome
по: Sleven, H, и др.
Опубликовано: (2016)

Investigating the functional requirement of nedd4l for mammalian hearing
по: Lee, JKH
Опубликовано: (2021)

Distributed coverage control for mobile sensors with location-dependent sensing models
по: Poduri, Sameera, и др.
Опубликовано: (2010)

Mission Design for Compressive Sensing with Mobile Robots
по: Hummel, Robert, и др.
Опубликовано: (2013)

Regulation of PKD by the MAPK p38delta in insulin secretion and glucose homeostasis.
по: Sumara, G, и др.
Опубликовано: (2009)

Enhanced ubiquitin-dependent degradation by Nedd4 protects against α-synuclein accumulation and toxicity in animal models of Parkinson's disease.
по: Davies, SE, и др.
Опубликовано: (2014)

Haemoglobin E beta thalassaemia in Sri Lanka.
по: Premawardhena, A, и др.
Опубликовано: (2005)

Clinical application of epilepsy genetics in Africa: is now the time?
по: Esterhuizen, AI, и др.
Опубликовано: (2018)

Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
по: Gorman, KM, и др.
Опубликовано: (2019)

Analysis of SMN function in development and Nedd4, a putative modifier of Parkinson's disease, in Drosophila melanogaster
по: Davies, S, и др.
Опубликовано: (2013)

Gaya berfikir guru terhadap pendekatan penyelesaian masalah lukisan kejuruteraan berdasarkan teori Nedd Herrmann /
по: Adnan Ahmad, 1969-
Опубликовано: (1999)

Yeast Reveal a ‘Druggable’ Rsp5/Nedd4 Network That Ameliorates α-Synuclein Toxicity in Neurons
по: Jui, Nathan T., и др.
Опубликовано: (2015)

The E3 ubiquitin ligase NEDD4 enhances killing of membrane-perturbing intracellular bacteria by promoting autophagy
по: Pei, G, и др.
Опубликовано: (2017)

ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo
по: Beilschmidt, L, и др.
Опубликовано: (2017)

Gaya berfikir guru terhadap pendekatan penyelesaian masalah lukisan kejuruteraan berdasarkan teori Nedd Herrmann ... [et al.] / [mikrofilem]
по: Adnan Ahmad, 1969-, и др.
Опубликовано: (1999)

Osteocyte density is higher in osteonal bone surrounding remodelling vs. quiescent canals in the human femoral neck.
по: Power, J, и др.
Опубликовано: (2000)

Osteocyte density in the human femoral neck is greater in osteonal bone adjacent to remodeling compared to resting Haversian canals.
по: Power, J, и др.
Опубликовано: (2000)

Periosteal alkaline phosphatase in the elderly female human femoral neck: Lower regional osteogenic activity in cases of hip fracture
по: Power, J, и др.
Опубликовано: (2001)

Setting the record straight on measuring SDG 4.2.1 - authors' reply
по: Olusanya, BO, и др.
Опубликовано: (2021)

The conundrum of a global tool for early childhood development to monitor SDG indicator 4.2.1
по: Olusanya, BO, и др.
Опубликовано: (2021)

Cbf1p modulates chromatin structure, transcription and repair at the Saccharomyces cerevisiae MET16 locus.
по: Ferreiro, J, и др.
Опубликовано: (2004)

A Comparison of Measured and Calculated Toroidal Alfven Eigenmode Damping Rates in Alcator C-Mod
по: Snipes, J.A., и др.
Опубликовано: (2015)

The alpha 2 chain of type 1 collagen does not map to mouse chromosome 16 but maps close to the Met proto-oncogene on mouse chromosome 6.
по: Irving, N, и др.
Опубликовано: (1989)

Preliminary design of a tandem mirror reactor
по: Strohmayer, J.N.
Опубликовано: (2015)

Mono‐Model Parameter Joint Inversion by Gramian Constraints: EM Methods Examples
по: Ogunbo, J. N.
Опубликовано: (2022)

Typical designs of medium span timber trusses (7 metres to 9 metres) for small scale industrial sheds through modern timber engineering techniques /
по: Masani, N. J.
Опубликовано: (1970)