Results 71 to 80 of about 9,658 (171)

C9orf72-mediated ALS and FTD: multiple pathways to disease [PDF]

, 2018
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized our understanding of these diseases.
Balendra, R, Rubika Balendra, Adrian M. Isaacs, Isaacs, AM   +3 more
core   +1 more source

C9orf72’s interaction with Rab GTPases - modulation of membrane traffic and autophagy

Frontiers in Cellular Neuroscience, 2016
Hexanucleotide repeat expansion in an intron of Chromosome 9 open reading frame 72 (C9orf72) is the most common genetic cause of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD).
Bor Luen Tang
doaj   +1 more source

Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review

Movement Disorders, EarlyView.
Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo, Per Borghammer, Inas Elsayed, Jennifer G. Goldman, Yue Huang, Katja Lohmann, Per Svenningsson, Lorraine V. Kalia, Daniela Berg, Jeffrey H. Kordower, the MDS Scientific Issues Committee   +10 more
wiley   +1 more source

Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72

Journal of Central Nervous System Disease, 2015
Background Expanded GGGGCC hexanucleotide repeats located in the noncoding region of the chromosome 9 open reading frame 72 ( C9orf72 ) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (ALS) and ...
Shouta Kitano, Yoshihiro Kino, Yoji Yamamoto, Mika Takitani, Junko Miyoshi, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arima, Jun-Ichi Satoh   +8 more
doaj   +1 more source

Toxicity of C9orf72 -associated dipeptide repeat peptides is modified by commonly used protein tags

Life Science Alliance, 2023
Protein tags affect the toxicity of C9orf72 -associated dipeptide repeat proteins and therefore should be avoided in preclinical models of C9orf72 ALS and FTD.
Javier Morón-Oset, Lilly KS Fischer, Mireia Carcolé, Ashling Giblin, Pingze Zhang, Adrian M Isaacs, Sebastian Grönke, Linda Partridge   +7 more
doaj   +1 more source

Muscle‐Specific Kinase Signaling and Its Therapeutic Potential

Muscle &Nerve, EarlyView.
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen, Dana L. E. Vergoossen, Maartje G. Huijbers   +2 more
wiley   +1 more source

Additional file 1: of Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity [PDF]

, 2018
Figures S1 through S10. Figure S1. Transcript expression of Tmem106b in Tmem106b deficiency mice at different ages. Figure S2. Tmem106b reduction does not alter the expression of its family members. Figure S3.
Karen Jansen-West (437936), Rosa Rademakers (85403), Ralph Perkerson (5327378), Billie Matchett (5327366), Aishe Kurti (4171081), Jeannie Chew (4277047), Emilie Perkerson (5327369), Lillian Daughrity (5327375), Melissa Murray (3584501), Dennis Dickson (417904), Tania Gendron (4104322), Xiaolai Zhou (3547520), Fenghua Hu (217655), Mieu Brooks (3444890), Virginia Phillips (4171087), John Fryer (4171090), Linda Rousseau (4171084), Alexandra Nicholson (4672738), NiCole Finch (5327372), Mariely DeJesus-Hernandez (5327354), Tammee Parsons (5327360), Monica Castanedes-Casey (3633028), Leonard Petrucelli (85402)   +22 more
core   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.

PLoS ONE, 2016
'Microtubule-associated protein tau' (MAPT), 'granulin' (GRN) and 'chromosome 9 open reading frame72' (C9ORF72) gene mutations are the major known genetic causes of frontotemporal dementia (FTD).
Gamze Guven, Ebba Lohmann, Jose Bras, J Raphael Gibbs, Hakan Gurvit, Basar Bilgic, Hasmet Hanagasi, Patrizia Rizzu, Peter Heutink, Murat Emre, Nihan Erginel-Unaltuna, Walter Just, John Hardy, Andrew Singleton, Rita Guerreiro   +14 more
doaj   +1 more source

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

Brain Pathology, EarlyView.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira, Yaiza López‐Sampere, Pol Mengod‐Soler, Mario Peña‐Fonteboa, Carla Marco, Alejandro Caravaca‐Puchades, Raúl Domínguez, Juan Francisco Vázquez‐Costa, Enrique Santamaría, Joaquín Fernández‐Irigoyen, María J. Colomina, Isabel León Moreno, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Gabriel Santpere, Elia Obis, Manuel Portero‐Otín, Gerard Piñol‐Ripoll, Mónica Povedano, Pol Andrés‐Benito   +19 more
wiley   +1 more source