User profiles for O. Reiner

Orly Reiner

Professor, Incumbent of the Berstein-Mason professorial chair of Neurochemistry, Weizmann …
Verified email at weizmann.ac.il
Cited by 14889

Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13

WB Dobyns, O Reiner, R Carrozzo, DH Ledbetter - Jama, 1993 - jamanetwork.com
Objective. —We review the clinical phenotype, pathological changes, and results of cytogenetic
and molecular genetic studies in 90 probands with lissencephaly (smooth brain) with …

A nomenclature consensus for nervous system organoids and assembloids

…, MA Lancaster, GL Ming, AR Muotri, IH Park, O Reiner… - Nature, 2022 - nature.com
Self-organizing three-dimensional cellular models derived from human pluripotent stem
cells or primary tissue have great potential to provide insights into how the human nervous …

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

…, JS Sutcliffe, YH Fu, DPA Kuhl, A Pizzuti, O Reiner… - Cell, 1991 - cell.com
Fragile X syndrome is the most frequent form of inherited mental retardation and is associated
with a fragile site at Xq27. 3. We identified human YAC clones that span fragile X site-…

Regulation of neuronal migration, an emerging topic in autism spectrum disorders

O Reiner, E Karzbrun, A Kshirsagar… - Journal of …, 2016 - Wiley Online Library
Autism spectrum disorders ( ASD ) encompass a group of neurodevelopmental diseases
that demonstrate strong heritability, however, the inheritance is not simple and many genes …

Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

O Reiner, R Carrozzo, Y Shen, M Wehnert… - Nature, 1993 - nature.com
O'Keefe and S. Jansa for technical assistance. This publication was supported by a NSF grant
… Filters were washed at high stringency (65 C, O.1 x SSC) and exposed to Kodak X-ray film …

[HTML][HTML] Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons

…, MC Vinet, G Friocourt, N McDonnell, O Reiner… - Neuron, 1999 - cell.com
Recently, we and others reported that the doublecortin gene is responsible for X-linked
lissencephaly and subcortical laminar heterotopia. Here, we show that Doublecortin is expressed …

The human glucocerebrosidase gene and pseudogene: structure and evolution

M Horowitz, S Wilder, Z Horowitz, O Reiner, T Gelbart… - Genomics, 1989 - Elsevier
We report the sequence of the entire human gene encoding β-glucocerebrosidase and that
of the associated pseudogene. The gene contains 11 exons extending from base pair 355 to …

Human brain organoids on a chip reveal the physics of folding

…, A Kshirsagar, SR Cohen, JH Hanna, O Reiner - Nature physics, 2018 - nature.com
Human brain wrinkling has been implicated in neurodevelopmental disorders and yet its
origins remain unknown. Polymer gel models suggest that wrinkling emerges spontaneously …

Doublecortin, a stabilizer of microtubules

…, M Caspi, M Elbaum, J Chelly, O Reiner - Human molecular …, 1999 - academic.oup.com
… We have preliminary results indicating that Doublecortin is phosphorylated by c-Abl (O. Reiner,
… Lis1 gene targeting in the mouse demonstrated a direct neuronal migration defect (16; O. …

[HTML][HTML] Reduction of microtubule catastrophe events by LIS1, platelet‐activating factor acetylhydrolase subunit

T Sapir, M Elbaum, O Reiner - The EMBO journal, 1997 - embopress.org
… enzymatic activity in microtubule preparations (O.Reiner, O.Schmuel and T.Sapir, … and
the higher concentration of LIS1 in comparison with the α1 and α2 PAF‐AH subunits (O.…