Results 51 to 60 of about 306,932 (310)

An Overview of Leber’s Hereditary Optic Neuropathy [PDF]

, 2015
Typically affecting males ranging from 20 to 24 years of age, Leber’s Hereditary Optic Neuropathy (LHON) is a disorder that is characterized by an acute loss of central vision.
Dalton, Matthew R
core   +2 more sources

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]

, 2013
Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello, A Lujan Feliu-Pascual, A Razzaq, A Tjondrokoesoemo, A Toussaint, AC Durieux, AH Beggs, AJ Muller, Anne Toussaint, AS Nicot, AY Mejaddam, B Qualmann, B Sinha, Belinda Cowling, BJ Peter, BS Cowling, C Fugier, C Kojima, C Spiegelhalter, CJ McMillan, CR Pierson, D Bansal, D Grabs, D Sakamuro, DJ Owen, E Lee, G Di Paolo, G Ren, G. Diane Shelton, Gregory A. Cox, H Jungbluth, Ivana Prokic, J Bohm, J Laporte, J Weis, JJ Dowling, Joachim Weis, Jocelyn Laporte, Johann Böhm, KC Chang, KG Claeys, L Klinge, Laurent Tiret, M Bitoun, M Maurer, M Pele, Marie Maurer, MH Butler, Nasim Vasli, NB Romero, NC Mao, R Wechsler-Reya, RJ Wechsler-Reya, S Pant, SE Davies, T Itoh, Thomas James Anderson, Ulrike Schara, Wolfram Kress   +58 more
core   +7 more sources

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

FEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia   +3 more
wiley   +1 more source

初诊为脑梗死的X连锁肾上腺脑白质营养不良1例报道A Case Report of X-Linked Adrenoleukodystrophy Initially Diagnosed as Cerebral Infarction

Zhongguo cuzhong zazhi
X连锁肾上腺脑白质营养不良（X-linked adrenoleukodystrophy，X-ALD）是一组罕见的神经系统疾病，其突变位点及临床表现多样，具有遗传异质性和临床异质性。该病的诊断需结合极长链脂肪酸浓度检测与ATP结合盒转运蛋白D1（ATP-binding cassette transporter D member 1，ABCD1）基因的遗传学分析。本文报道1例表现不典型的X-ALD患者被误诊为脑梗死的临床诊疗过程。该患者为青年男性，表现为进行性步态障碍、下肢痉挛伴无力。在诊疗过程中 ...
龚宇田, 梁新明, 曲辉, 周衡, 陈玮琪, 刘艳芳, 赵性泉, 王伊龙GONG Yutian, LIANG Xinming, QU Hui, ZHOU Heng, CHEN Weiqi, LIU Yanfang, ZHAO Xingquan, WANG Yilong
doaj   +1 more source

Coagulation factor XIII deficiency – Report of a newborn F13A1 Val34Leu polymorphism carrier

Journal of Pediatric and Neonatal Individualized Medicine, 2022
Coagulation factor XIII deficiency (FXIIID) is a rare inherited autosomal recessive bleeding disorder. FXIIID is the only coagulation factor deficiency that has been associated with pregnancy loss.
Georgios N. Katsaras, Dimitra Gialamprinou, Ilias Chatziioannidis, Paraskevi Karagianni, Georgios Mitsiakos   +4 more
doaj   +1 more source

Treatable inherited rare movement disorders [PDF]

Movement Disorders, 2017
ABSTRACTThere are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled ...
Jinnah, H. A., Albanese, Alberto, Jankovic, Joseph, Kaji, Ryuji, Kotschet, Katya, Marras, Connie, Miyasaki, Janis M, Morgante, Francesca, Munchau, Alexander, Pal, Pramod Kumar, Rodriguez Oroz, Maria C, Rodríguez-Violante, Mayela, Bhatia, Kailash P, Schöls, Ludger, Stamelou, Maria, Tijssen, Marina, Uribe Roca, Claudia, de la Cerda, Andres, Gatto, Emilia M, Disorders, International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement, Cardoso, Francisco, Da Prat, Gustavo, de Koning, Tom J, Espay, Alberto J, Fung, Victor, Garcia-Ruiz, Pedro J, Gershanik, Oscar   +26 more
openaire   +5 more sources

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases. [PDF]

, 2016
Gerstmann-Sträussler-Scheinker disease (GSS) is an inherited neurodegenerative disorder associated with mutations in the prion protein gene and accumulation of misfolded PrP with protease-resistant fragments (PrPres) of 6–8 ...
Agrimi, Umberto, Appleby, Brian S., Cohen, Mark L., Di Bari, Michele A., D’Agostino, Claudia, Gambetti, Pierluigi, Ghetti, Bernardino, Marcon, Stefano, Nonno, Romolo, Pirisinu, Laura, Poleggi, Anna, Riccardi, Geraldina   +11 more
core   +1 more source

Thrombosis in Inherited Fibrinogen Disorders [PDF]

Transfusion Medicine and Hemotherapy, 2017
Although inherited fibrinogen disorders (IFD) are primarily considered to be bleeding disorders, they are associated with a higher thrombotic complication risk than defects in other clotting factors. Managing IFD patients with thrombosis is challenging as anticoagulant treatment may exacerbate the underlying bleeding risk which can be life-threatening.
Korte, W., Poon, M., Iorio, A., Makris, M.   +3 more
openaire   +2 more sources