An atlas of genetic influences on osteoporosis in humans and mice

…, AL Luco, J Vijay, MM Simon, A Pramatarova… - Nature …, 2019 - nature.com
Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral
density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative …

Neuron-specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor impairment

A Pramatarova, J Laganière, J Roussel… - Journal of …, 2001 - Soc Neuroscience
Mutations were identified in the Cu/Zn superoxide dismutase gene (SOD1) in ∼15% of patients
with familial amyotrophic lateral sclerosis. Transgenic animals expressing mutant SOD1 …

Single-cell analysis of human adipose tissue identifies depot-and disease-specific cell types

…, WA Cheung, B Belden, A Pramatarova… - Nature …, 2020 - nature.com
The complex relationship between metabolic disease risk and body fat distribution in humans
involves cellular characteristics that are specific to body fat compartments. Here we show …

SOD1 mutation is assosiated with accumulation of neurofilaments in amyotrophic lateral scelaries

…, AW Clark, K Rooke, A Pramatarova… - Annals of …, 1996 - Wiley Online Library
Mutations in the Cu/Zn superoxide dismutase (SODl) gene are found in 15 to 20% of
patients with familial amyotrophic lateral sclerosis (FALS). Increased levels of neurofilament …

Receptor clustering is involved in Reelin signaling

…, EJ Weeber, JD Sweatt, A Pramatarova… - … and cellular biology, 2004 - Taylor & Francis
The Reelin signaling cascade plays a crucial role in the correct positioning of neurons
during embryonic brain development. Reelin binding to apolipoprotein E receptor 2 (ApoER2) …

Epigenetic variation impacts individual differences in the transcriptional response to influenza infection

…, Z Mu, V Yotova, R Sindeaux, A Pramatarova… - Nature Genetics, 2024 - nature.com
Humans display remarkable interindividual variation in their immune response to identical
challenges. Yet, our understanding of the genetic and epigenetic factors contributing to such …

Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR

…, S Papillon-Cavanagh, P Sin-Chan, A Pramatarova… - Nature …, 2014 - nature.com
Embryonal tumors with multilayered rosettes (ETMRs) are rare, deadly pediatric brain
tumors characterized by high-level amplification of the microRNA cluster C19MC 1 , 2 . We …

Reduction of Crk and CrkL expression blocks reelin-induced dendritogenesis

T Matsuki, A Pramatarova… - Journal of cell …, 2008 - journals.biologists.com
The reelin signaling pathway regulates nervous system function after birth, in addition to its
role in regulating neuronal positioning during embryogenesis. The receptor-dependent, reelin…

Nckβ interacts with tyrosine-phosphorylated disabled 1 and redistributes in Reelin-stimulated neurons

A Pramatarova, PG Ochalski, K Chen… - … and cellular biology, 2003 - Taylor & Francis
The tyrosine phosphorylation sites of the Disabled 1 (Dab1) docking protein are essential for
the transmission of the Reelin signal, which regulates neuronal placement. Here we identify …

Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

A Pramatarova, DA Figlewicz, A Krizus… - American journal of …, 1995 - ncbi.nlm.nih.gov
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder affecting motor
neurons. Although most cases of ALS are sporadic, approximately 10% are inherited as an …