Results 51 to 60 of about 3,802,908 (215)

Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy

Equine Veterinary Journal, EarlyView.
Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan, Blythe Durbin‐Johnson, Kevin Woolard, Andrew D. Miller, Carrie J. Finno   +4 more
wiley   +1 more source

Miglustat in Niemann-Pick disease type c (NPC) [PDF]

, 2008
Miglustat in Niemann-Pick disease type c ...
Ed Wraith (15917000), Darleen Vecchio (15917003), Helena Prady (15917006), Marc Patterson (5636096), Larry Abel (13056207)   +4 more
core   +2 more sources

Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report

Journal of Medical Case Reports, 2012
Introduction Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations.
Skorpen Johannes, Helland Ingrid B, Tennøe Bjørn   +2 more
doaj   +1 more source

A multiplex interactome of Ebola virus proteins reveals TM9SF2 as a cell‐surface attachment factor that promotes viral entry

iMetaOmics, EarlyView.
This study generates a comprehensive Ebola virus (EBOV)‐human protein–protein interactome, comprising 1728 core high‐confidence interactions. Further interactome analysis revealed the potential association of EBOV glycoprotein (GP) with the host factor TM9SF2. Subsequent mechanistic investigations confirmed that TM9SF2 functions as an attachment factor
Limin Shang, Shouwen Du, Yuchen Liu, Letian Li, Xi Wu, Yanzhi Yuan, Chaozhi Jin, Qingkun Mi, Yuhang Wang, Xiaoshuang Shi, Jiamin Wang, Guoqing Zhang, Yidan Ma, Weijin Huang, Jigang Wang, Jian Wang, Chang Li   +16 more
wiley   +1 more source

The Niemann-Pick disease [PDF]

, 2017
Адрес за кореспонденция: Доц. д-р Красимир Коев, дм, Катедра по спешна медицина, Медицински университет – София, тел.: 0896291020, e-mail: k00007@abv.bg ***** Address for correspondence: Assoc. Prof.
Коев./Koev, Кр./Kr.
core  

Dyslipidaemia, Chronic Kidney Disease and Diabetes Mellitus: A Triple Threat to Cardiovascular Health

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Diabetes mellitus (DM) and chronic kidney disease (CKD) frequently coexist and together create a ‘triple threat’ with dyslipidaemia, enhancing the risk for cardiovascular morbidity and mortality. Diabetic kidney disease (DKD) leads to altered lipid metabolism through insulin resistance, inflammation and oxidative stress resulting in an ...
Ann S. Forrest, Priyanka Majety, Stéphanie B. Mayer, Om P. Ganda   +3 more
wiley   +1 more source

First person – Jorge Rodriguez-Gil

Disease Models & Mechanisms, 2020
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Malaria mosquito antimicrobial defence requires immunity and detoxification gene regulation by Lola

Insect Molecular Biology, EarlyView.
Malaria mosquito antimicrobial defence requires upregulation of lola. Attenuation of lola in the midgut of Anopheles albimanus mosquitoes inhibits the upregulation of immunity genes induced by challenge. Putative target genes of the Lola transcription factor were revealed by lola attenuation, including Cecropin‐C, Draper, PPAF2, Clip‐domain serine ...
Heidi Espadas‐Álvarez, Verónica Valverde‐Garduño   +1 more
wiley   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2010
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births.
Vanier Marie T
doaj   +1 more source