Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation

Authors: Kelsey R Baron, Samantha Oviedo, Sophia Krasny, Mashiat Zaman, Rama Aldakhlallah, Prerona Bora, Prakhyat Mathur, Gerald Pfeffer, Michael J Bollong, Timothy E Shutt, Danielle A Grotjahn, R Luke Wiseman

Source: eLife, Vol 13 (2025)

Subject Terms: integrated stress response, mitochondrial morphology, mitochondrial fragmentation, stress signaling, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/100541; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/8caf1458b53d46bb8ca8e358ff2155c4

Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

Authors: Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz‐Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio‐Nur Villar‐Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas E. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis

Source: Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 686-695 (2023)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/a319ff4d3dcf4e0d84c1086d8301b2c9

Prognostic Utility of Cardiovascular Magnetic Resonance–Based Phenotyping in Patients With Muscular Dystrophy

Authors: Niharika Kashyap, Anish Nikhanj, Dina Labib, Easter Prosia, Sandra Rivest, Jacqueline Flewitt, Gerald Pfeffer, Jeffrey A. Bakal, Zaeem A. Siddiqi, Richard A. Coulden, Richard Thompson, James A. White, Gavin Y. Oudit

Source: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 21 (2023)

Subject Terms: cardiovascular magnetic resonance, major adverse cardiac events, muscular dystrophy, prognosis, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/2047-9980

Access URL: https://doaj.org/article/e679954337e942ff919061192669941d

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

Authors: Manisha Korb, Allison Peck, Lindsay N. Alfano, Kenneth I. Berger, Meredith K. James, Nupur Ghoshal, Elise Healzer, Claire Henchcliffe, Shaida Khan, Pradeep P. A. Mammen, Sujata Patel, Gerald Pfeffer, Stuart H. Ralston, Bhaskar Roy, William W. Seeley, Andrea Swenson, Tahseen Mozaffar, Conrad Weihl, Virginia Kimonis, the VCP Standards of Care Working Group

Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/bf65cfbc490c497cb1d7639887c6cbbe

A new automated tool to quantify nucleoid distribution within mitochondrial networks

Authors: Hema Saranya Ilamathi, Mathieu Ouellet, Rasha Sabouny, Justine Desrochers-Goyette, Matthew A. Lines, Gerald Pfeffer, Timothy E. Shutt, Marc Germain

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/0eca7eaf2ac94324bd6e7a0fe98724dc

Methodology for clinical genotyping of CYP2D6 and CYP2C19

Authors: Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, Yabing Wang, Vasyl Yavorskyy, Keanna Wallace, Rachael Dong, Kristina Martens, Michael S. Carr, Bahareh Behroozi Asl, Joshua Hague, Sudhakar Sivapalan, Wolfgang Maier, Mojca Z. Dernovsek, Neven Henigsberg, Joanna Hauser, Daniel Souery, Annamaria Cattaneo, Ole Mors, Marcella Rietschel, Gerald Pfeffer, Stacey Hume, Katherine J. Aitchison

Source: Translational Psychiatry, Vol 11, Iss 1, Pp 1-9 (2021)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/2158-3188

Access URL: https://doaj.org/article/16d854a36fa943aab4f32e69d4f3a396

Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosis

Authors: Sarah M. Orton, Amarpreet Sangha, Mehul Gupta, Kristina Martens, Luanne M. Metz, A. P. J. de Koning, Gerald Pfeffer

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: multiple sclerosis, vitamin D deficiency, super-enhancers, vitamin D receptor (VDR), vitamin D, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1064008/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/43770c769a174fb0b2b1d65ed810dbc3

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss [version 2; peer review: 2 approved, 1 approved with reservations]

Authors: Davide Martino, Kristina Martens, Matthew Joel, Rasha Sabouny, Mashiat Zaman, Timothy E. Shutt, Gerald Pfeffer, A.P. Jason de Koning, Govinda Sharma

Source: F1000Research, Vol 10 (2022)

Subject Terms: Mitochondria, MFN2, Mitochondrial Fusion, Ataxia, eng, Medicine, Science

File Description: electronic resource

Relation: https://f1000research.com/articles/10-606/v2; https://doaj.org/toc/2046-1402

Access URL: https://doaj.org/article/3e32624fbeac4668a777c63592bc7744

Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson’s disease using machine learning

Authors: Mehrafarin Ramezani, Pauline Mouches, Eunjin Yoon, Deepthi Rajashekar, Jennifer A. Ruskey, Etienne Leveille, Kristina Martens, Mekale Kibreab, Tracy Hammer, Iris Kathol, Nadia Maarouf, Justyna Sarna, Davide Martino, Gerald Pfeffer, Ziv Gan-Or, Nils D. Forkert, Oury Monchi

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/204558a8b15c462ebcd859ce0e968136

Neuromuscular Complications of SARS-CoV-2 and Other Viral Infections

Authors: Sarah Jacob, Ronak Kapadia, Tyler Soule, Honglin Luo, Kerri L. Schellenberg, Renée N. Douville, Gerald Pfeffer

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: COVID-19, SARS-CoV-2, neuromuscular disease (NMD), Guillain-Barre syndrome, viral disease, autoimmune disease, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.914411/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/c02ed316082b49928e4a6268fd408696

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia

Authors: Tatiana Maroilley, Nicola A. M. Wright, Catherine Diao, Linda MacLaren, Gerald Pfeffer, Justyna R. Sarna, Ping Yee Billie Au, Maja Tarailo-Graovac

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: ATM, deep intronic variant, synonymous variant, whole-genome sequencing, splicing, missing heritability, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.815210/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/0da7af0c6dbb48f197c965836205d610

The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathyResearch in context

Authors: Walaa Almutawa, Christopher Smith, Rasha Sabouny, Ryan B. Smit, Tian Zhao, Rachel Wong, Laurie Lee-Glover, Justine Desrochers-Goyette, Hema Saranya Ilamathi, Oksana Suchowersky, Marc Germain, Paul E. Mains, Jillian S. Parboosingh, Gerald Pfeffer, A. Micheil Innes, Timothy E. Shutt

Source: EBioMedicine, Vol 45, Iss , Pp 379-392 (2019)

Subject Terms: Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396419303998; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/1419440341e14615abfb0148b8088d98

Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types

Authors: Kristina Martens, Jamie Leckie, Daniel Fok, Robyn A. Wells, Sameer Chhibber, Gerald Pfeffer

Source: Frontiers in Neurology, Vol 11 (2021)

Subject Terms: myopathy, calpain 3, LGMD2A, late onset, transdifferentiation, bone marrow transplantation, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.604547/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/54ab76d33294456284693c295c345abf

Association Between BDNF Val66Met Polymorphism and Mild Behavioral Impairment in Patients With Parkinson's Disease

Authors: Mehrafarin Ramezani, Jennifer A. Ruskey, Kristina Martens, Mekale Kibreab, Zainul Javer, Iris Kathol, Tracy Hammer, Jenelle Cheetham, Etienne Leveille, Davide Martino, Justyna R. Sarna, Ziv Gan-Or, Gerald Pfeffer, Zahinoor Ismail, Oury Monchi

Source: Frontiers in Neurology, Vol 11 (2021)

Subject Terms: BDNF, Parkinson's disease, mild behavioral impairment, neuropsychiatric symptoms, depression, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.587992/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/32ebafd918184b15aa667ccc0154a6e7

Reinventing Medicine

Authors: Gerald Pfeffer

Source: McGill Journal of Medicine, Vol 7, Iss 1 (2020)

Subject Terms: medicine, nonlocal, reinventing, Medicine

File Description: electronic resource

Relation: https://mjm.mcgill.ca/article/view/632; https://doaj.org/toc/1715-8125

Access URL: https://doaj.org/article/965cd46832cc4e7da84c866daea6817d

Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19

Authors: Beatriz Carvalho Henriques, Avery Buchner, Xiuying Hu, Yabing Wang, Vasyl Yavorskyy, Keanna Wallace, Rachael Dong, Kristina Martens, Michael S. Carr, Bahareh Behroozi Asl, Joshua Hague, Sudhakar Sivapalan, Wolfgang Maier, Mojca Z. Dernovsek, Neven Henigsberg, Joanna Hauser, Daniel Souery, Annamaria Cattaneo, Ole Mors, Marcella Rietschel, Gerald Pfeffer, Stacey Hume, Katherine J. Aitchison

Source: Translational Psychiatry, Vol 12, Iss 1, Pp 1-1 (2022)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/2158-3188

Access URL: https://doaj.org/article/a556860718d54d89b0437b184050708a

Colchicine Myopathy: A Case Series Including Muscle MRI and ABCB1 Polymorphism Data

Authors: Mehul Gupta, Ana Nikolic, Denise Ng, Kristina Martens, Hamid Ebadi, Sameer Chhibber, Gerald Pfeffer

Source: Frontiers in Neurology, Vol 10 (2019)

Subject Terms: colchicine, statin, myopathy, vacuolar, muscle MRI, pharmacogenetics, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00553/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/350745e3cea74ca9a23311ecdeb2a099

Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics

Authors: Govinda Sharma, Gerald Pfeffer, Timothy E. Shutt

Source: Biology, Vol 10, Iss 4, p 268 (2021)

Subject Terms: neuropathy, mitochondria, mitochondrial dynamics, fusion, fission, transport, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2079-7737/10/4/268; https://doaj.org/toc/2079-7737

Access URL: https://doaj.org/article/61dab7cef0c2455d8cc947a24fab8e9e

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

Authors: Tyler Soule, Cecile Phan, Chris White, Lothar Resch, Atilano Lacson, Kristina Martens, Gerald Pfeffer

Source: Frontiers in Neurology, Vol 9 (2018)

Subject Terms: hereditary inclusion body myopathy, distal myopathy, GNE, genetics, muscle MRI, muscle pathology, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2018.00942/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/28947d3eab2d4ce9b927a2efa8f1a8df

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

Authors: Zhiyv Niu, Carly Sabine Pontifex, Sarah Berini, Leslie E. Hamilton, Elie Naddaf, Eric Wieben, Ross A. Aleff, Kristina Martens, Angela Gruber, Andrew G. Engel, Gerald Pfeffer, Margherita Milone

Source: Frontiers in Neurology, Vol 9 (2018)

Subject Terms: distal myopathy, myofibrillar myopathy, respiratory insufficiency, rimmed vacuoles, SQSTM1, TIA1, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fneur.2018.00147/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/b52b8d2eeaf5408ca25991522ea4a062