User profiles for Jeremie Vitte
 | Jeremie VitteUCLA, Department of Head and Neck Surgery Verified email at mednet.ucla.edu Cited by 1263 |
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition
Mutations of the spastin gene (Sp) are responsible for the most frequent autosomal dominant
form of spastic paraplegia, a disease characterized by the degeneration of corticospinal …
form of spastic paraplegia, a disease characterized by the degeneration of corticospinal …
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria
…, AO Stemmer‐Rachamimov, J Vitte… - American journal of …, 2013 - Wiley Online Library
Schwannomatosis is the third major form of neurofibromatosis and is characterized by the
development of multiple schwannomas in the absence of bilateral vestibular schwannomas. …
development of multiple schwannomas in the absence of bilateral vestibular schwannomas. …
Refined characterization of the expression and stability of the SMN gene products
J Vitte, C Fassier, FD Tiziano, C Dalard, S Soave… - The American journal of …, 2007 - Elsevier
Spinal muscular atrophy (SMA) is characterized by degeneration of lower motor neurons and
caused by mutations of the SMN1 gene. SMN1 is duplicated in a homologous gene called …
caused by mutations of the SMN1 gene. SMN1 is duplicated in a homologous gene called …
Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload
JM Vitte, B Davoult, N Roblot, M Mayer, V Joshi… - The American journal of …, 2004 - Elsevier
Spinal muscular atrophy (SMA) is characterized by degeneration of lower motor neurons
caused by mutations of the survival motor neuron 1 gene (SMN1). SMN is involved in various …
caused by mutations of the survival motor neuron 1 gene (SMN1). SMN is involved in various …
[HTML][HTML] Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development
J Vitte, F Gao, G Coppola, AR Judkins… - Nature …, 2017 - nature.com
Germline mutations of the SMARCB1 gene predispose to two distinct tumor syndromes:
rhabdoid tumor predisposition syndrome, with malignant pediatric tumors mostly developing in …
rhabdoid tumor predisposition syndrome, with malignant pediatric tumors mostly developing in …
mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma
M Giovannini, NX Bonne, J Vitte, F Chareyre… - Neuro …, 2014 - academic.oup.com
Background Neurofibromatosis type 2 (NF2) is a rare autosomal dominant genetic disorder,
resulting in a variety of neural tumors, with bilateral vestibular schwannomas as the most …
resulting in a variety of neural tumors, with bilateral vestibular schwannomas as the most …
[HTML][HTML] Expanding the mutational spectrum of LZTR1 in schwannomatosis
Schwannomatosis is characterized by the development of multiple non-vestibular, non-intradermal
schwannomas. Constitutional inactivating variants in two genes, SMARCB1 and, very …
schwannomas. Constitutional inactivating variants in two genes, SMARCB1 and, very …
[HTML][HTML] Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1
…, DF Carlson, MN Kirstein, J Fisher, J Vitte… - Communications …, 2018 - nature.com
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin
1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to …
1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to …
Leucine-rich repeat kinase 2 is associated with the endoplasmic reticulum in dopaminergic neurons and accumulates in the core of Lewy bodies in Parkinson disease
J Vitte, S Traver, A Maués De Paula… - … of Neuropathology & …, 2010 - academic.oup.com
Mutation of the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequent genetic cause
of Parkinson disease (PD). To understand the role of LRRK2 in the neuropathology of PD, …
of Parkinson disease (PD). To understand the role of LRRK2 in the neuropathology of PD, …
Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2
…, M Niwa-Kawakita, R Chen, CH White, J Vitte… - Clinical Cancer …, 2013 - AACR
Purpose: The growth and survival of neurofibromatosis type 2 (NF2)–deficient cells are
enhanced by the activation of multiple signaling pathways including ErbBs/IGF-1R/Met, PI3K/Akt, …
enhanced by the activation of multiple signaling pathways including ErbBs/IGF-1R/Met, PI3K/Akt, …