Results 121 to 130 of about 472,601 (312)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Mitochondrial dysfunction in neurodegenerative diseases

, 1998
M. Flint Beal
openalex   +1 more source

Mitochondrial Abnormalities in Alzheimer's Disease [PDF]

, 2001
Keisuke Hirai, Gjumrakch Aliev, Akihiko Nunomura, Hisashi Fujioka, Robert L. Russell, Craig Atwood, Toby Johnson, Yvonne Kress, Harry V. Vinters, Massimo Tabaton, Shun Shimohama, Ayla Cash, Sandra L. Siedlak, Peggy L.R. Harris, Paul K. Jones, Robert B. Petersen, George Perry, Mark A. Smith   +17 more
openalex   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Mitochondrial Genes in Degenerative Disease and Aging [PDF]

, 2001
Douglas C. Wallace
openalex   +2 more sources

Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: implications for mitochondrial DNA replication, expression and disease [PDF]

, 2001
Aleksandra Muratovska, Robert N. Lightowlers, Robert W. Taylor, Douglass M. Turnbull, Robin A.J. Smith, Matthew C. J. Wilce, Stephen W. Martin, Michael P. Murphy   +7 more
openalex   +1 more source

Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu, Hao Zhang, Chao Gao, Qiuhua Yu, Moli Fan, Lin‐Jie Zhang, Haipeng Zhang, Hengri Cong, Yuzhen Wei, Chotima Böttcher, Alexej Verkhratsky, Friedemann Paul, Fu‐Dong Shi, Tian Song   +13 more
wiley   +1 more source

Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease [PDF]

, 2001
Takehiro Yasukawa, Tsutomu Suzuki, Norie Ishii, Shigeo Ohta, Kimitsuna Watanabe   +4 more
openalex   +1 more source

Cognitive Resilience in Apolipoprotein ε4 Carrier Women Predicted by Neuron‐Derived Extracellular Vesicles

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Apolipoprotein (APOE) ε4 allele is the strongest genetic risk factor for late‐onset Alzheimer's disease (AD); however, many ε4 carriers remain cognitively intact into old age. Leveraging plasma neuron‐derived extracellular vesicles (NDEVs), we sought to identify biomarkers of cognitive resilience and their interplay with APOE ...
Apostolos Manolopoulos, Maja Mustapic, Carlos Nogueras‐Ortiz, Francheska Delgado‐Peraza, Krishna A. Pucha, Pamela J. Yao, Joseph Blommer, Michael P. Vreones, William York, De' Larrian Knight, Stephen R. Rapp, Aladdin H. Shadyab, JoAnn E. Manson, Ramon Casanova, Robert B. Wallace, Luigi Ferrucci, Susan M. Resnick, Dimitrios Kapogiannis   +17 more
wiley   +1 more source

Is Bax a mitochondrial mediator in apoptotic death of dopaminergic neurons in Parkinson's disease? [PDF]

, 2001
Andréas Hartmann, Patrick P. Michel, Jean‐Denis Troadec, Annick Mouatt‐Prigent, Baptiste Faucheux, Merle Ruberg, Y. Agid, Étienne C. Hirsch   +7 more
openalex   +1 more source