Results 71 to 80 of about 80,232 (259)

Neuid: A Novel Neuron‐Enriched LncRNA that Connects Epigenetic Gene Silencing to Alzheimer's Disease

Advanced Science, EarlyView.
ABSTRACT The increasing evidence that non‐coding RNAs can become deregulated during pathogenesis is dramatically expanding the space for drug discovery beyond the protein‐coding genome. Long noncoding RNAs (lncRNAs) are emerging as key regulators of cellular function, yet most remain uncharacterized.
Ranjit Pradhan, Zorica Petrovic, M. Sadman Sakib, Sophie Schröder, Dennis Manfred Krüger, Tonatiuh Pena, Eren Diniz, Susanne Burkhardt, Anna‐Lena Schütz, Verena Gisa, Iga Grzadzielewska, Karl Toischer, Thor D. Stein, Jan Krzysztof Blusztajn, Ivana Delalle, Jelena Radulovic, Farahnaz Sananbenesi, Andre Fischer   +17 more
wiley   +1 more source

Population-based study of acquired cerebellar ataxia in Al-Kharga district, New Valley, Egypt

Neuropsychiatric Disease and Treatment, 2011
Wafaa MA Farghaly1, Hamdy N El-Tallawy1, Ghaydaa A Shehata1, Tarek A Rageh1, Nabil Abdel Hakeem2, Noha M Abo-Elfetoh11Department of Neurology and Psychiatry, Assiut University, Assiut, Egypt; 2Al Azhar University, Assiut Branch, EgyptBackground: The aim ...
Farghaly WMA, El-Tallawy HN, Shehata GA, Rageh TA, Abdel Hakeem N, Abo-Elfetoh NM   +5 more
doaj  

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.

PLoS ONE, 2017
BackgroundThe inositol 1,4,5-triphosphate (IP3) receptor type 1 gene (ITPR1) encodes the IP3 receptor type 1 (IP3R1), which modulates intracellular calcium homeostasis and signaling. Mutations in ITPR1 have been implicated in inherited cerebellar ataxias.
Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soong   +5 more
doaj   +1 more source

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]

, 2014
Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Al-Mahdawi, Al-Mahdawi, Al-Mahdawi, Albano, Bidichandani, Brandon Brown, Brian D. Scott, Bridwell-Rabb, Campuzano, Catterall, Chantrel-Groussard, Chorley, Chutake, Condò, Cossée, Cox, De Biase, Deutsch, Drechsel, Dürr, Fahey, Filla, Florestano, Frank, Friedman, Gino A. Cortopassi, Greene, Hashemy, Heike Wulff, Huang, Kalinin, Kensler, Kim, Kim, Koeppen, Koeppen, Kosower, Kosower, Kruger, Lai, Larkin, Liu, Lopert, Lu, Lu, Marissa Z. McMackin, Mark A. Pook, Miranda, Mittal Jasoliya, Montermini, Osburn, Paredes-Gonzalez, Paupe, Riah, Sandi, Sangster, Saveliev, Schmitz-Hübsch, Selak, Shan, Shan, Shan, Shelmire, Sinha, Streck, Subramaniam, Sunil Sahdeo, Susan L. Perlman, Tan, Tan, Tella, Verdon, Wang, Wang, Weaver, Willis, Yang, Yu, Zhang   +78 more
core   +1 more source

A Tac1‐Expressing Brainstem Pathway Underlies the Pathogenesis of Trigeminal Neuralgia

Advanced Science, EarlyView.
A critical TG‐Sp5CTac1‐PBNTac1 pathway drives trigeminal neuropathic pain (TNP). Tac1‐expressing parabrachial nucleus (PBNTac1) neurons exhibit heightened responses to innocuous stimuli in TNP, and chemogenetic inhibition of these neurons effectively prevents TNP development.
Liting Sun, Jia‐Jia Wang, Xiang‐Yu Li, Xin‐Yi Lin, Juan Li, Qiu‐Tong Yu, Zi‐Han Wang, Xue‐Ping Gao, Lei Jin, Wei‐Ke Li, Tian‐Lin Cheng, Juan Deng   +11 more
wiley   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Cost of Cerebellar Ataxia in Hong Kong: A Retrospective Cost-of-Illness Analysis

Frontiers in Neurology, 2020
Background: Cerebellar ataxia affects the coordination and balance of patients. The impact of this disease increases burden in patients, caregivers and society.
Winser John Stanley, Chan Kit Laam Kelly, Chinn Ching Tung, Tang Wai Lok, Tye Man Kit Ringo, Yeung Kai Ho, Raymond Cheung   +6 more
doaj   +1 more source

Üner Tan Syndrome: Review and Emergence of Human Quadrupedalism in Self-Organization,\ud Attractors and Evolutionary Perspectives\ud [PDF]

, 2012
The first man reported in the world literature exhibiting habitual quadrupedal locomotion was discovered by a British traveler and writer on the famous Baghdat road near Havsa/Samsun on the middle Black-Sea coast of Turkey (Childs, 1917).
Karaca, Dr. Sibel, Tamam, Prof. Dr. Yusuf, Tan, Prof. Dr. Meliha, Tan, Prof. Dr. Uner   +3 more
core  

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia [PDF]

, 2014
© The Author 2014. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution,
Al-Mahdawi, Al-Mahdawi, Block, Campuzano, Campuzano, Capdevila, Capdevila, Castaldo, Chantrel-Groussard, Chen, Cossee, Dewitt, Durr, Durr, Feng, Genki Hayashi, Gino Cortopassi, Harding, John W. Newman, Kang, Koeppen, Li, Liang, Lin, Lu, Mark Pook, Masi, Michael, Miranda, Node, O'Flaherty, Paupe, Piemonte, Piro, Praticò, Qin, Ristow, Rojo, Samuelsson, Sanchez-Mejia, Schulz, Shan, Shi, Shin, Small, Smith, Strokin, Tan, Teismann, Theresa L. Pedersen, Tian, Wardlaw, Wong, Wong, Xi, Yan, Yan Shen, Zhang   +57 more
core   +2 more sources