URochester Medicine / Labs / Mackenzie Lab / Publications

Publications

1. Sandkuhler SE
2. Youngs KS
3. Gottipalli O
4. Owlett LD
5. Bandora MB
6. Naaz A
7. Kim E
8. Wang L
9. Wojtovich A
10. Gupta V
11. Sacher M
12. Mackenzie SJ
Cross-species evaluation of TANGO2 homologs, including HRG-9 and HRG-10 in Caenorhabditis elegans, challenges a proposed role in heme trafficking.; eLife; Vol 14. 2026 Jan 08.
1. Granato JM
2. Silver N
3. Hobbins A
4. Randolph J
5. Stout A
6. Gelbard HA
7. Gunnersen JM
8. Mackenzie SJ
9. White PM
10. Hammond JW
SEZ6L2 Loss Disrupts Motor Coordination, Cognitive Function, and Synaptic Connectivity.; bioRxiv : the preprint server for biology. 2026 Jan 01.
1. Rosenthal DN
2. Amodeo A
3. Butterfield RJ
4. Butts R
5. Chrzanowski S
6. Cripe L
7. Day J
8. Davies R
9. Duong T
10. Evers P
11. Gambetta K
12. Harris R
13. Hayes E
14. Kaufman B
15. Lorts A
16. Mack G
17. Mackenzie SJ
18. Mammen P
19. Markham L
20. McAlister J
21. McDonald C
22. Nakano SJ
23. Nandi D
24. Navaratnam M
25. Nelson S
26. Parent JJ
27. Piccoli C
28. Richmond M
29. Rocha C
30. Sawnani H
31. Schrader R
32. Shell R
33. Shih R
34. Shugh S
35. Smart T
36. Soslow J
37. Spinner J
38. Taivassalo T
39. Tunugtla H
40. VanderPluym C
41. Veerapandiyan A
42. Villa C
43. Wittlieb-Weber C
44. Zafarullah M
45. Hollander S
Heart Transplantation and Ventricular Assist Device in Duchenne Muscular Dystrophy: A New Era.; Pediatric transplantation; Vol 30(1), pp. e70253. 2026 Jan.
1. Skocy H
2. McFerren A
3. Cairns D
4. Kenney HM
5. Tallis E
6. Dhamoon AS
7. Garbade E
8. Mackenzie SJ
TANGO2 deficiency disorder in a 61-year-old male with episodic weakness, rhabdomyolysis, myotonia, and a novel missense variant.; Molecular genetics and metabolism reports; Vol 44, pp. 101241. 2025 Jul 04.
1. Sandkuhler SE
2. Mackenzie SJ
Mitochondrial mayhem: Disrupting conserved N-terminal motifs in TANGO2 impacts its localization and function.; The Journal of cell biology; Vol 224(5). 2025 Apr 15.
1. Bekircan-Kurt CE
2. Subramanian S
3. Chagat S
4. Mackenzie SJ
5. Iammarino M
6. Reash N
7. Richardson C
8. Tsao CY
9. Noritz G
10. Gushue C
11. Kotha K
12. Paul G
13. Shell R
14. Alfano LN
15. Lowes LP
16. Connolly AM
17. Waldrop MA
Transitioning From Nusinersen to Risdiplam for Spinal Muscular Atrophy in Clinical Practice: A Single-Center Experience.; Muscle & nerve. 2025 Jan 02.
1. Sacher M
2. DeLoriea J
3. Mehranfar M
4. Casey C
5. Naaz A
6. Gamberi C
TANGO2 deficiency disease is predominantly caused by a lipid imbalance.; Disease models & mechanisms; Vol 17(6). 2024 Jun 05.
1. Owlett LD
2. Zapanta B
3. Sandkuhler SE
4. Ames EG
5. Hickey SE
6. Mackenzie SJ
7. Meisner JK
Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.; American journal of medical genetics. Part A. 2024 Jun 03.
1. Miyake CY
2. Mackenzie SJ
3. Zhang L
Top Stories on arrhythmias in TANGO2 deficiency disorder.; Heart rhythm; Vol 21(5), pp. 707-709. 2024 May.
1. Miyake CY
2. Ehsan SA
3. Zhang L
4. Mackenzie SJ
5. Azamian MS
6. Scott DA
7. Hernandez-Garcia A
8. Lalani SR
Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.; American journal of medical genetics. Part A; Vol 191(9), pp. 2433-2439. 2023 Jul 08.
1. Sandkuhler SE
2. Youngs KS
3. Owlett L
4. Bandora MB
5. Naaz A
6. Kim ES
7. Wang L
8. Wojtovich AP
9. Gupta VA
10. Sacher M
11. Mackenzie SJ
Haem's relevance genuine? Re-visiting the roles of TANGO2 homologues including HRG-9 and HRG-10 in C. elegans.; bioRxiv : the preprint server for biology. 2023 Jan 04.
1. Sandkuhler SE
2. Zhang L
3. Meisner JK
4. Ghaloul-Gonzalez L
5. Beach CM
6. Harris D
7. de Lonlay P
8. Lalani SR
9. Miyake CY
10. Mackenzie SJ
B-complex vitamins for patients with TANGO2-deficiency disorder.; Journal of inherited metabolic disease; Vol 46(2), pp. 161-162. 2022 Dec 30.
1. Miyake CY
2. Lay EJ
3. Soler-Alfonso C
4. Glinton KE
5. Houck KM
6. Tosur M
7. Moran NE
8. Stephens SB
9. Scaglia F
10. Howard TS
11. Kim JJ
12. Pham TD
13. Valdes SO
14. Li N
15. Murali CN
16. Zhang L
17. Kava M
18. Yim D
19. Beach C
20. Webster G
21. Liberman L
22. Janson CM
23. Kannankeril PJ
24. Baxter S
25. Singer-Berk M
26. Wood J
27. Mackenzie SJ
28. Sacher M
29. Ghaloul-Gonzalez L
30. Pedroza C
31. Morris SA
32. Ehsan SA
33. Azamian MS
34. Lalani SR
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.; Genetics in medicine : official journal of the American College of Medical Genetics; Vol 25(4), pp. 100352. 2022 Dec 05.
1. Mackenzie SJ
2. Hamel J
3. Thornton CA
Benefits of aerobic exercise in myotonic dystrophy type 1.; The Journal of clinical investigation; Vol 132(10). 2022 May 16.
1. Deng S
2. Lee BH
3. Ciafaloni E
4. Mackenzie SJ
The 4-copy conundrum in the treatment of infants with spinal muscular atrophy.; Annals of neurology. 2022 Mar 25.
1. Bajwa JS
2. Harp J
3. Mackenzie SJ
4. Thiele R
Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA) following SARS-CoV2 vaccination; Brown Hospital Medicine; Vol 1(4). 2022 Jan 01.
1. Powell AR
2. Ames EG
3. Knierbein EN
4. Hannibal MC
5. Mackenzie SJ
Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA).; Pediatric neurology; Vol 119. 2021 Jun.
1. Mackenzie SJ
2. Nicolau S
3. Connolly AM
4. Mendell JR
Therapeutic Approaches for Duchenne Muscular Dystrophy: Old and New.; Seminars in pediatric neurology; Vol 37, pp. 100877. 2021 Feb 11.
1. Mackenzie SJ
2. Lin CC
3. Todd PK
4. Burke JF
5. Callaghan BC
Genetic testing utilization for patients with neurologic disease and the limitations of claims data.; Neurology. Genetics; Vol 6(2). 2020 Apr.
1. Mackenzie SJ
2. Yi JL
3. Singla A
4. Russell TM
5. Osterhout DJ
6. Calancie B
Cauda equina repair in the rat: Part 3. Axonal regeneration across Schwann cell-Seeded collagen foam.; Muscle & nerve; Vol 57(1). 2018 Jan.
1. MacKenzie SJ
2. Yi JL
3. Singla A
4. Russell TM
5. Calancie B
Innervation and function of rat tail muscles for modeling cauda equina injury and repair.; Muscle & nerve; Vol 52(1). 2015 Jul.
1. Mackenzie SJ
2. Smirnov I
3. Calancie B
Cauda equina repair in the rat: part 2. Time course of ventral root conduction failure.; Journal of neurotrauma; Vol 29(8). 2012 May 20.
1. Getchell N
2. Mackenzie SJ
3. Marmon AR
Short term auditory pacing changes dual motor task coordination in children with and without dyslexia.; Adapted physical activity quarterly : APAQ; Vol 27(1). 2010 Jan.
1. Mackenzie SJ
2. Getchell N
3. Modlesky CM
4. Miller F
5. Jaric S
Using grasping tasks to evaluate hand force coordination in children with hemiplegic cerebral palsy.; Archives of physical medicine and rehabilitation; Vol 90(8). 2009 Aug.
1. Mackenzie SJ
2. Getchell N
3. Deutsch K
4. Wilms-Floet A
5. Clark JE
6. Whitall J
Multi-limb coordination and rhythmic variability under varying sensory availability conditions in children with DCD.; Human movement science; Vol 27(2). 2008 Apr.